Sugi Variant

Sugi Variant/FLNA

FLNA — 4050 ClinVar variants

All ClinVar germline FLNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1689 flagged for review →

196 Pathogenic · 21 Pathogenic/Likely pathogenic · 141 Likely pathogenic · 486 Conflicting · 139 Benign · 202 Benign/Likely benign · 1395 Likely benign · 1470 Uncertain significance

Full FLNA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1689

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 246

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 246

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 831

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 831

Predictors split 608

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 608

All FLNA variants

Pathogenic 196

  • c.2022+1G>A Multiple submitters Melnick-Needles syndrome
  • p.Ala843fs Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg1515Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg2242Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg226Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg2419Ter Multiple submitters otopalatodigital syndrome type 2
  • p.Arg674fs Multiple submitters FLNA related lung disease
  • p.Gln1259Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln2385Ter Multiple submitters
  • p.Gln2546Ter Multiple submitters otopalatodigital syndrome type 2
  • p.Glu1977fs Multiple submitters periventricular nodular heterotopia
  • p.Leu1483fs Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu2082fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys88del Multiple submitters Melnick-Needles syndrome
  • p.Thr1739= Multiple submitters Melnick-Needles syndrome
  • p.Tyr373Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val1721fs Multiple submitters FLNA-related disorder
  • p.Val2132fs Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val2212fs Multiple submitters frontometaphyseal dysplasia
  • c.1065+1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.1430-1G>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.1570_1573delGGAG Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1829-2A>G Single submitter heterotopia, periventricular, X-linked dominant
  • c.2405-2A>G Single submitter
  • c.2565+1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.2565+1G>C Single submitter heterotopia, periventricular, X-linked dominant
  • c.2566-2A>G Single submitter
  • c.2828del Single submitter
  • c.3806delG Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.4142+2T>G Single submitter
  • c.5557+2T>G Single submitter Melnick-Needles syndrome
  • c.6227-1G>A Single submitter Melnick-Needles syndrome
  • c.6227-2A>G Single submitter
  • c.623-2A>G Single submitter
  • c.6503-1G>A Single submitter
  • c.6908-2A>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.7551_7552+6del Single submitter
  • c.7756+2T>A Single submitter otopalatodigital syndrome type 2
  • c.7757-1G>C Single submitter
  • p.Ala15fs Single submitter
  • p.Ala1642fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala1893Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala2238fs Single submitter frontometaphyseal dysplasia 1
  • p.Ala2257fs Single submitter Melnick-Needles syndrome
  • p.Ala228Ser Single submitter otopalatodigital syndrome type 2
  • p.Ala677fs Single submitter otopalatodigital syndrome type 2
  • p.Ala818fs Single submitter frontometaphyseal dysplasia
  • p.Arg1272fs Single submitter Melnick-Needles syndrome
  • p.Arg1359fs Single submitter
  • p.Arg2201fs Single submitter
  • p.Arg276_Pro277insTer Single submitter heterotopia, periventricular, X-linked dominant
  • p.Arg7fs Single submitter FLNA-related disorder
  • p.Asn1137fs Single submitter
  • p.Asn296fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn399fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asn47fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asn762fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp2403_Val2404insTer Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp2467fs Single submitter Melnick-Needles syndrome
  • p.Asp337delinsArgGlnTer Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp918fs Single submitter Melnick-Needles syndrome
  • p.Asp988fs Single submitter Melnick-Needles syndrome
  • p.Cys1165Ter Single submitter epilepsy
  • p.Cys1920Ter Single submitter frontometaphyseal dysplasia
  • p.Gln1248Ter Single submitter frontometaphyseal dysplasia
  • p.Gln1507Ter Single submitter
  • p.Gln1665Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln1716fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln1716Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln1760Ter Single submitter
  • p.Gln1765Ter Single submitter frontometaphyseal dysplasia 1
  • p.Gln182Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln193Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln2055Ter Single submitter
  • p.Gln2172fs Single submitter Melnick-Needles syndrome
  • p.Gln2227fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln2300Ter Single submitter Melnick-Needles syndrome
  • p.Gln231Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln2341Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln363Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln387Ter Single submitter frontometaphyseal dysplasia
  • p.Gln559Ter Single submitter
  • p.Gln712Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln910Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln989Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu112fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu1177Ter Single submitter Melnick-Needles syndrome
  • p.Glu1695fs Single submitter otopalatodigital syndrome type 2
  • p.Glu2110fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu2194fs Single submitter Melnick-Needles syndrome
  • p.Glu2625fs Single submitter frontometaphyseal dysplasia
  • p.Glu541Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu567Ter Single submitter Melnick-Needles syndrome
  • p.Glu587Ter Single submitter Melnick-Needles syndrome
  • p.Glu82Val Single submitter otopalatodigital syndrome type 2
  • p.Glu981Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1099fs Single submitter frontometaphyseal dysplasia
  • p.Gly1257fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1289Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1614fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly2430fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly509fs Single submitter otopalatodigital syndrome type 2
  • p.His2058fs Single submitter Melnick-Needles syndrome
  • p.His2196fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ile1799fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile2069fs Single submitter Melnick-Needles syndrome
  • p.Ile2084fs Single submitter
  • p.Ile2166fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ile247fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile551fs Single submitter Melnick-Needles syndrome
  • p.Leu114fs Single submitter
  • p.Leu1424fs Single submitter
  • p.Leu1555fs Single submitter
  • p.Leu1788fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Leu2401fs Single submitter Melnick-Needles syndrome
  • p.Leu2538fs Single submitter frontometaphyseal dysplasia
  • p.Lys169fs Single submitter Melnick-Needles syndrome
  • p.Lys1937Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Lys2119fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Lys2559fs Single submitter Melnick-Needles syndrome
  • p.Lys355= Single submitter frontometaphyseal dysplasia
  • p.Lys742fs Single submitter
  • p.Lys781fs Single submitter
  • p.Lys876Ter Single submitter Melnick-Needles syndrome
  • p.Lys87fs Single submitter otopalatodigital syndrome type 2
  • p.Met1960fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Phe1711Ter Single submitter
  • p.Phe2130fs Single submitter
  • p.Phe2353Ser Single submitter neurodevelopmental disorder
  • p.Phe407fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Phe49fs Single submitter otopalatodigital syndrome type 2
  • p.Pro1223Leu Single submitter heterotopia, periventricular, X-linked dominant
  • p.Pro168fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Pro271fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ser1991fs Single submitter X-linked FLNA-related disorders
  • p.Ser2152Ter Single submitter
  • p.Ser219fs Single submitter Melnick-Needles syndrome
  • p.Ser2279fs Single submitter Melnick-Needles syndrome
  • p.Ser2308Ter Single submitter Melnick-Needles syndrome
  • p.Ser2455delinsThrTer Single submitter Melnick-Needles syndrome
  • p.Ser2558fs Single submitter patent foramen ovale
  • p.Ser256fs Single submitter epilepsy
  • p.Ser968fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr1276fs Single submitter Melnick-Needles syndrome
  • p.Thr1380fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr1594fs Single submitter
  • p.Thr2336fs Single submitter Melnick-Needles syndrome
  • p.Thr790fs Single submitter
  • p.Trp175Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp235Ter Single submitter
  • p.Trp2632Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Trp345Ter Single submitter frontometaphyseal dysplasia
  • p.Trp636Ter Single submitter Melnick-Needles syndrome
  • p.Tyr1308fs Single submitter
  • p.Tyr1428fs Single submitter Melnick-Needles syndrome
  • p.Tyr1608Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Tyr2106Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Tyr2501fs Single submitter Melnick-Needles syndrome
  • p.Tyr731fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Tyr791fs Single submitter Melnick-Needles syndrome
  • p.Val1052fs Single submitter
  • p.Val1952fs Single submitter
  • p.Val2516fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val306fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val372fs Single submitter Melnick-Needles syndrome
  • p.Val472fs Single submitter Melnick-Needles syndrome
  • p.Val645fs Single submitter frontometaphyseal dysplasia
  • p.Val774fs Single submitter
  • p.Val983fs Single submitter heterotopia, periventricular, X-linked dominant
  • c.1829-1G>C No assertion criteria cardiac valvular dysplasia, X-linked
  • c.2280+266_2827-25delinsTG No assertion criteria cardiac valvular dysplasia, X-linked
  • c.2280+389T>A No assertion criteria intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
  • c.373+1G>A No assertion criteria heterotopia, periventricular, X-linked dominant
  • c.720+2T>C No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Ala128Val No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Ala1383fs No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Ala39Gly No assertion criteria heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1635_Val1637del No assertion criteria otopalatodigital syndrome spectrum disorder
  • p.Arg1725fs No assertion criteria FLNA-related disorder
  • p.Arg921fs No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Arg96fs No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Asp1159Ala No assertion criteria frontometaphyseal dysplasia 1
  • p.Asp1931_Tyr1932insTer No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Asp203Tyr No assertion criteria otopalatodigital syndrome type 1
  • p.Cys210Phe No assertion criteria otopalatodigital syndrome type 2 ⚠
  • p.Gln1484Ter No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Gly1728Cys No assertion criteria otopalatodigital syndrome spectrum disorder
  • p.Gly208Arg No assertion criteria HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME ⚠
  • p.Leu2439Met No assertion criteria HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA
  • p.Met28Val No assertion criteria heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro637Gln No assertion criteria cardiac valvular dysplasia, X-linked
  • p.Thr23fs No assertion criteria intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
  • p.Tyr1720Ter No assertion criteria
  • p.Tyr1846fs No assertion criteria Abnormal cerebral morphology
  • p.Tyr2305Ter No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Val711Asp No assertion criteria cardiac valvular dysplasia, X-linked

Pathogenic/Likely pathogenic 21

  • c.1066-1G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4598+1G>A Multiple submitters otopalatodigital syndrome type 2
  • c.4599-1G>A Multiple submitters
  • c.4750_4755+18del Multiple submitters cardiac valvular dysplasia, X-linked
  • c.5861-2A>G Multiple submitters FLNA-related disorder
  • p.Ala1188Thr Multiple submitters Melnick-Needles syndrome
  • p.Arg921Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln1749Ter Multiple submitters Melnick-Needles syndrome
  • p.Gln378fs Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu254Lys Multiple submitters X-linked otopalatodigital spectrum disorders
  • p.Glu642Ter Multiple submitters cardiac valvular dysplasia, X-linked
  • p.Gly1554Arg Multiple submitters cardiac valvular dysplasia, X-linked
  • p.Gly1576Arg Multiple submitters otopalatodigital syndrome type 2
  • p.Gly288Arg Multiple submitters otopalatodigital syndrome type 2
  • p.Pro207Leu Multiple submitters FLNA-related disorder
  • p.Ser1186Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ser1199Leu Multiple submitters Melnick-Needles syndrome
  • p.Ser343fs Multiple submitters periventricular nodular heterotopia
  • p.Ter2648SerextTer? Multiple submitters otopalatodigital syndrome type 2
  • p.Trp41Ter Multiple submitters Melnick-Needles syndrome
  • p.Val2594fs Multiple submitters heterotopia, periventricular, X-linked dominant

Likely pathogenic 141

  • c.5417-2A>G Multiple submitters Melnick-Needles syndrome
  • c.868+1G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.987+1G>A Multiple submitters FLNA-related disorder
  • p.1680GK[1] Multiple submitters Melnick-Needles syndrome
  • p.Cys574Ter Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln1182Ter Multiple submitters FLNA-related disorder
  • p.Glu2142fs Multiple submitters otopalatodigital syndrome type 2
  • p.Gly1576Trp Multiple submitters frontometaphyseal dysplasia 1
  • c.1065+1G>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.1430-2_1449del Single submitter Melnick-Needles syndrome
  • c.2023-6_2023-5insA Single submitter
  • c.2023-6_2026delinsACGCT Single submitter cardiac valvular dysplasia, X-linked
  • c.2137-1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.2404+1G>A Single submitter FLNA-related disorder
  • c.2405-1G>C Single submitter otopalatodigital syndrome type 2
  • c.2827-2A>C Single submitter frontometaphyseal dysplasia
  • c.2944+2T>A Single submitter Melnick-Needles syndrome
  • c.374-2A>G Single submitter otopalatodigital syndrome type 2
  • c.3805+1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.3805+2T>C Single submitter heterotopia, periventricular, X-linked dominant
  • c.3806-2A>G Single submitter heterotopia, periventricular, X-linked dominant
  • c.3980-5_3990dup Single submitter heterotopia, periventricular, X-linked dominant
  • c.4142+1G>A Single submitter frontometaphyseal dysplasia
  • c.4143-1G>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.4143-2del Single submitter heterotopia, periventricular, X-linked dominant
  • c.4143-6_4160del Single submitter FLNA-related disorder
  • c.4475-2A>G Single submitter Melnick-Needles syndrome
  • c.4596_4598+5del Single submitter heterotopia, periventricular, X-linked dominant
  • c.5686+1G>C Single submitter Melnick-Needles syndrome
  • c.5997_6022+1dup Single submitter periventricular nodular heterotopia
  • c.622+1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.622+5G>C Single submitter cardiac valvular dysplasia, X-linked
  • c.6502+1G>T Single submitter Attenuated frontometaphyseal dysplasia
  • c.6502+3_6502+30del Single submitter Attenuated frontometaphyseal dysplasia
  • c.6503-2A>C Single submitter heterotopia, periventricular, X-linked dominant
  • c.6905_6907+4del Single submitter FLNA-related disorder
  • c.7023+1G>A Single submitter FLNA-related disorder
  • c.7023+1G>T Single submitter otopalatodigital syndrome type 2
  • c.7023+4A>T Single submitter Vascular dilatation
  • c.7024-1G>C Single submitter FLNA-related disorder
  • c.7156+1G>A Single submitter FLNA-related disorder
  • c.7156+2T>C Single submitter
  • c.7333+1G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.7333+1G>C Single submitter otopalatodigital syndrome type 2
  • p.Ala1063fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala1175Pro Single submitter
  • p.Arg2001fs Single submitter
  • p.Asn1881fs Single submitter FLNA-related disorder
  • p.Asn2113fs Single submitter FLNA-related disorder
  • p.Asn94Asp Single submitter otopalatodigital syndrome type 2
  • p.Asp125Asn Single submitter periventricular nodular heterotopia
  • p.Asp1336fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp1709fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp253Glu Single submitter
  • p.Asp2634fs Single submitter
  • p.Cys1645Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Cys1865fs Single submitter FLNA-related disorder
  • p.Cys2160Tyr Single submitter prune belly syndrome ⚠
  • p.Cys53Gly Single submitter Seizure
  • p.Cys717Ter Single submitter FLNA-related disorder
  • p.Gln10fs Single submitter FLNA-related disorder
  • p.Gln1755Ter Single submitter FLNA-related disorder
  • p.Gln1817Ter Single submitter FLNA-related disorder
  • p.Gln182fs Single submitter FLNA-related disorder
  • p.Gln426Ter Single submitter FLNA-related disorder
  • p.Gln46fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln801fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln95Ter Single submitter FLNA-related disorder
  • p.Glu1177fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu2098fs Single submitter FLNA-related disorder
  • p.Glu2194Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu2235Ter Single submitter FLNA-related disorder
  • p.Glu2313fs Single submitter FLNA-related disorder
  • p.Glu245fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu245Gly Single submitter Paediatric disorders
  • p.Glu27Ter Single submitter FLNA-related disorder
  • p.Glu349Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu405Ter Single submitter FLNA-related disorder
  • p.Gly1176Glu Single submitter ⚠
  • p.Gly139Arg Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1661fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1728Val Single submitter Melnick-Needles syndrome
  • p.Gly195Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gly208Cys Single submitter periventricular nodular heterotopia ⚠
  • p.Gly2236Val Single submitter prune belly syndrome ⚠
  • p.Gly2247fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly2436Arg Single submitter cardiac valvular dysplasia, X-linked
  • p.His354fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ile1222fs Single submitter FLNA-related disorder
  • p.Ile1664fs Single submitter
  • p.Leu111Pro Single submitter FLNA-related disorder
  • p.Leu1540fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Leu172Phe Single submitter
  • p.Leu2591del Single submitter frontometaphyseal dysplasia
  • p.Leu279fs Single submitter FLNA-related disorder
  • p.Leu80Val Single submitter heterotopia, periventricular, X-linked dominant
  • p.Lys1593fs Single submitter Cardiovascular phenotype
  • p.Lys1683_Val1684insTer Single submitter FLNA-related disorder
  • p.Lys2184fs Single submitter FLNA-related disorder
  • p.Lys2280fs Single submitter FLNA-related disorder
  • p.Lys676fs Single submitter FLNA-related disorder
  • p.Lys88fs Single submitter FLNA-related disorder
  • p.Met1Leu Single submitter Melnick-Needles syndrome
  • p.Met28Ile Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Phe2353fs Single submitter otopalatodigital syndrome type 2
  • p.Phe2406fs Single submitter FLNA-related disorder
  • p.Phe2578Leu Single submitter frontometaphyseal dysplasia 1
  • p.Pro211Arg Single submitter ⚠
  • p.Pro281fs Single submitter FLNA-related disorder
  • p.Pro967fs Single submitter FLNA-related disorder
  • p.Ser377Ter Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ser564fs Single submitter FLNA-related disorder
  • p.Ser972fs Single submitter FLNA-related disorder
  • p.Thr1065fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr1648fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr2517fs Single submitter FLNA-related disorder
  • p.Thr50fs Single submitter
  • p.Trp2262Ter Single submitter FLNA-related disorder
  • p.Tyr1324Ter Single submitter FLNA-related disorder
  • p.Tyr1720fs Single submitter FLNA-related disorder
  • p.Tyr287Ter Single submitter FLNA related lung disease
  • p.Tyr403fs Single submitter FLNA-related disorder
  • p.Tyr403Ter Single submitter FLNA-related disorder
  • p.Tyr731Ter Single submitter otopalatodigital syndrome type 1
  • p.Tyr838Ter Single submitter FLNA-related disorder
  • p.Val107Met Single submitter ⚠
  • p.Val1297fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val1440fs Single submitter
  • p.Val1674fs Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val1778fs Single submitter cardiac valvular dysplasia, X-linked
  • p.Val2355fs Single submitter Melnick-Needles syndrome
  • p.Val2644Leu Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Val579fs Single submitter
  • p.Val866fs Single submitter
  • c.2404+1G>T No assertion criteria FLNA-related disorder
  • c.5217+5G>A No assertion criteria FLNA-related disorder
  • p.Cys1997fs No assertion criteria Macrothrombocytopenia
  • p.Gln1857Ter No assertion criteria FLNA-related disorder
  • p.Glu2258Ter No assertion criteria heterotopia, periventricular, X-linked dominant
  • p.Ile1596fs No assertion criteria FLNA-related disorder
  • p.Ser1166fs No assertion criteria FG syndrome 2

Conflicting classifications of pathogenicity 486

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1429+8C>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.1691+6G>A Single submitter
  • c.1691+7C>A Single submitter frontometaphyseal dysplasia
  • c.1692-12T>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.1692-13C>G Single submitter otopalatodigital syndrome type 2
  • c.1692-3C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1829-8G>A Single submitter Melnick-Needles syndrome
  • c.2023-5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.2023-6C>T Single submitter Melnick-Needles syndrome
  • c.2023-8C>T Single submitter otopalatodigital syndrome type 2
  • c.2137-2A>G Single submitter Thoracic aortic aneurysm or dissection ⚠
  • c.2281-7C>T Single submitter
  • c.2405-4G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.2405-5C>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.2405-8_2405-5dup Single submitter heterotopia, periventricular, X-linked dominant
  • c.2826+7A>G Single submitter otopalatodigital syndrome type 2
  • c.3207+5T>C Single submitter otopalatodigital syndrome type 2
  • c.3208-5del Single submitter otopalatodigital syndrome type 2
  • c.374-3C>T Single submitter Melnick-Needles syndrome
  • c.3979+5G>A Single submitter heterotopia, periventricular, X-linked dominant
  • c.4303+6G>T Single submitter Melnick-Needles syndrome
  • c.4304-25_4304-17del Single submitter Melnick-Needles syndrome
  • c.4474+4A>G Single submitter frontometaphyseal dysplasia
  • c.4945+3G>A Single submitter frontometaphyseal dysplasia
  • c.5218-4G>A Single submitter otopalatodigital syndrome type 2
  • c.6022+3A>G Single submitter Melnick-Needles syndrome
  • c.6022+6C>T Single submitter otopalatodigital syndrome type 2
  • c.622+6G>A Single submitter otopalatodigital syndrome type 2
  • c.6227-7C>T Single submitter heterotopia, periventricular, X-linked dominant
  • c.623-7G>A Single submitter Melnick-Needles syndrome
  • c.6770-5C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.7024-18del Single submitter heterotopia, periventricular, X-linked dominant
  • c.720+5A>T Single submitter otopalatodigital syndrome type 2
  • c.7757-5C>G Single submitter otopalatodigital syndrome type 2
  • c.*8G>A Single submitter
  • p.Ala1015= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala1072= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1086Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ala1110= Single submitter otopalatodigital syndrome type 2
  • p.Ala1175Thr Single submitter Melnick-Needles syndrome ⚠
  • p.Ala1252Val Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala1383Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1448Val Single submitter frontometaphyseal dysplasia ⚠
  • p.Ala1478Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1481Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1816= Single submitter frontometaphyseal dysplasia
  • p.Ala1816Val Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala1950Val Single submitter Melnick-Needles syndrome ⚠
  • p.Ala2205Thr Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ala2243Gly Single submitter Melnick-Needles syndrome ⚠
  • p.Ala2268= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2351Gly Single submitter Melnick-Needles syndrome ⚠
  • p.Ala2351Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala2461Ser Single submitter frontometaphyseal dysplasia ⚠
  • p.Ala2549Ser Single submitter Melnick-Needles syndrome ⚠
  • p.Ala2557= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala26Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala26Val Single submitter FLNA-related disorder ⚠
  • p.Ala334Thr Single submitter Melnick-Needles syndrome ⚠
  • p.Ala485= Single submitter Melnick-Needles syndrome
  • p.Ala485Val Single submitter frontometaphyseal dysplasia ⚠
  • p.Ala510Thr Single submitter frontometaphyseal dysplasia ⚠
  • p.Ala666Gly Single submitter frontometaphyseal dysplasia ⚠
  • p.Ala666Val Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ala693Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala721Val Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ala745Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala797Thr Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ala872Thr Single submitter Melnick-Needles syndrome ⚠
  • p.Ala877Pro Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala998Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1032Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1032His Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg1036Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1036His Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg1087Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg1087His Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1172Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1272Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1283Trp Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1296Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1296His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1312Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1357Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1357Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1359Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1359His Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg1464Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1532Gln Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg1633= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg1633His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1635Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1753Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1809Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1831Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg1845Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg190Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg1951Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1959Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg1959His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg196Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg196Trp Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg2001Gln Single submitter Melnick-Needles syndrome ⚠
  • p.Arg2051Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2073His Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2103Gly Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2139Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2146Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2201Cys Single submitter Melnick-Needles syndrome ⚠
  • p.Arg2242Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2288His Single submitter cardiac valvular dysplasia, X-linked ⚠
  • p.Arg2333Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2334Cys Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg2391Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2391His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2395Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2419Gln Single submitter Melnick-Needles syndrome ⚠
  • p.Arg2419Gly Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2484Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2484His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg24Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2520Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2520His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2598= Single submitter Melnick-Needles syndrome
  • p.Arg2612Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg2643Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg276Gln Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg276Trp Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg301Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg301Leu Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg301Trp Single submitter Melnick-Needles syndrome ⚠
  • p.Arg340Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg340His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg437Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg467Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg484Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg484Trp Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg488Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg496Gln Single submitter connective tissue disorder ⚠
  • p.Arg527Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg527His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg563Cys Single submitter frontometaphyseal dysplasia ⚠
  • p.Arg563His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg634Cys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg655Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg655His Single submitter Melnick-Needles syndrome ⚠
  • p.Arg678Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg708Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg708Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg7Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg7Pro Single submitter FLNA-related disorder ⚠
  • p.Arg828Pro Single submitter Melnick-Needles syndrome
  • p.Arg841Trp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg884Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn1117Ser Single submitter frontometaphyseal dysplasia ⚠
  • p.Asn1371= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1371Thr Single submitter FLNA-related disorder ⚠
  • p.Asn1502Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asn1556Asp Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asn1781Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asn1864Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asn2113Ser Single submitter frontometaphyseal dysplasia ⚠
  • p.Asn726= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asn831Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asn931Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp1027Glu Single submitter Melnick-Needles syndrome ⚠
  • p.Asp1116Glu Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asp1314Asn Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp1332Gly Single submitter frontometaphyseal dysplasia ⚠
  • p.Asp1354Asn Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asp1474Asn Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asp1501= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp1571Asn Single submitter frontometaphyseal dysplasia ⚠
  • p.Asp1709Glu Single submitter Melnick-Needles syndrome ⚠
  • p.Asp1956Asn Single submitter frontometaphyseal dysplasia ⚠
  • p.Asp2096Asn Single submitter Melnick-Needles syndrome ⚠
  • p.Asp2161Asn Single submitter frontometaphyseal dysplasia ⚠
  • p.Asp22= Single submitter otopalatodigital syndrome type 2
  • p.Asp22Gly Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp2331= Single submitter otopalatodigital syndrome type 2
  • p.Asp2331Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp2384Asn Single submitter Melnick-Needles syndrome ⚠
  • p.Asp375Asn Single submitter FLNA-related disorder ⚠
  • p.Asp375Gly Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp380Asn Single submitter Melnick-Needles syndrome ⚠
  • p.Asp439Asn Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Asp535Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp604= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asp625= Single submitter connective tissue disorder
  • p.Asp625Asn Single submitter Melnick-Needles syndrome ⚠
  • p.Asp632Asn Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp823Asn Single submitter cardiac valvular dysplasia, X-linked ⚠
  • p.Asp871= Single submitter otopalatodigital syndrome type 2
  • p.Asp984Glu Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Cys1108Tyr Single submitter frontometaphyseal dysplasia ⚠
  • p.Cys1185= Single submitter frontometaphyseal dysplasia
  • p.Cys2107Phe Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Cys2543Tyr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Cys574Arg Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gln10Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gln1432Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gln1484Arg Single submitter Melnick-Needles syndrome ⚠
  • p.Gln1488Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln1716Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln1817= Single submitter
  • p.Gln2477Arg Single submitter Melnick-Needles syndrome ⚠
  • p.Gln2546Arg Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gln363Leu Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gln45Arg Single submitter Neurodevelopmental delay ⚠
  • p.Gln618His Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gln941Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu1038Lys Single submitter Melnick-Needles syndrome ⚠
  • p.Glu1351Lys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Glu1393= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu2059Lys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Glu2137= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu2137Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu2282= Single submitter otopalatodigital syndrome type 2
  • p.Glu2313Lys Single submitter Melnick-Needles syndrome ⚠
  • p.Glu245Lys Single submitter FLNA-related disorder ⚠
  • p.Glu2529Lys Single submitter FLNA-related disorder ⚠
  • p.Glu2635Lys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Glu349Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu371Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu431Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Glu514Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu541Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu541Lys Single submitter otopalatodigital syndrome type 2
  • p.Glu622Lys Single submitter Melnick-Needles syndrome ⚠
  • p.Glu652Lys Single submitter frontometaphyseal dysplasia ⚠
  • p.Glu798Lys Single submitter Melnick-Needles syndrome ⚠
  • p.Glu888Lys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1094= Single submitter otopalatodigital syndrome type 2
  • p.Gly1215Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1236= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1257Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly132Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1384= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1640Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1661Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1728= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly174Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly1767Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gly1802= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1826Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1904Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1918Glu Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly2100Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly2138Cys Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly2291Asp Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gly2291Ser Single submitter Melnick-Needles syndrome ⚠
  • p.Gly2441Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2442Ser Single submitter frontometaphyseal dysplasia ⚠
  • p.Gly2460Asp Single submitter Melnick-Needles syndrome ⚠
  • p.Gly2633del Single submitter otopalatodigital syndrome type 2
  • p.Gly325Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly390Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gly412= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly414= Single submitter otopalatodigital syndrome type 2
  • p.Gly438= Single submitter otopalatodigital syndrome type 2
  • p.Gly462Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly534Val Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Gly539Asp Single submitter Melnick-Needles syndrome ⚠
  • p.Gly562Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly588= Single submitter otopalatodigital syndrome type 2
  • p.Gly589Ser Single submitter Melnick-Needles syndrome ⚠
  • p.Gly603Trp Single submitter Melnick-Needles syndrome ⚠
  • p.Gly629Ser Single submitter Melnick-Needles syndrome ⚠
  • p.Gly641= Single submitter FLNA-related periventricular nodular heterotopia
  • p.Gly686Asp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly702Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly716Asp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly729Asp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly813Arg Single submitter frontometaphyseal dysplasia ⚠
  • p.Gly953Glu Single submitter Melnick-Needles syndrome ⚠
  • p.Gly9Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His1329Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His1361Arg Single submitter otopalatodigital syndrome type 2 ⚠
  • p.His1443Asn Single submitter otopalatodigital syndrome type 2 ⚠
  • p.His2029Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His2159Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His354Tyr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.His787Gln Single submitter otopalatodigital syndrome type 2 ⚠
  • p.His870Tyr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.His928Arg Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1008Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1136Val Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ile1138Val Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1666Thr Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ile1971Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile2070Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile2273Val Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile2364= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile2402Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile2507Thr Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Ile365Val Single submitter otopalatodigital syndrome type 2
  • p.Ile397= Single submitter otopalatodigital syndrome type 2
  • p.Ile420Met Single submitter Melnick-Needles syndrome ⚠
  • p.Ile754Val Single submitter Melnick-Needles syndrome ⚠
  • p.Ile862Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠

Benign 139

  • c.1429+83C>T Multiple submitters
  • c.1828+39C>T Multiple submitters
  • c.1829-13T>C Multiple submitters otopalatodigital syndrome type 2
  • c.2281-196T>C Multiple submitters
  • c.2281-324A>C Multiple submitters
  • c.2281-341A>C Multiple submitters
  • c.373+61T>C Multiple submitters
  • c.374-166C>A Multiple submitters
  • c.374-19G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.3805+15C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4474+89A>C Multiple submitters
  • c.4598+38A>G Multiple submitters
  • c.4946-53C>T Multiple submitters
  • c.5417-44C>T Multiple submitters
  • c.5686+85A>G Multiple submitters
  • c.6022+45G>A Multiple submitters
  • c.7024-39T>C Multiple submitters
  • c.7157-170C>G Multiple submitters
  • c.7334-64T>C Multiple submitters
  • c.7553-18A>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7756+11= Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.869-28C>G Multiple submitters
  • c.869-41C>T Multiple submitters
  • c.869-7C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.-116-48T>C Multiple submitters
  • c.*117C>T Multiple submitters
  • c.*84A>C Multiple submitters
  • p.Glu2478= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly2408= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.His2608Tyr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1090= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu656= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser2523Asn Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Thr1557Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr294= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Tyr1938= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val2214= Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.1430-223= Single submitter
  • c.1691+11dup Single submitter otopalatodigital syndrome type 2
  • c.2280+189T>C Single submitter
  • c.2280+75del Single submitter
  • c.2656+18A>G Single submitter otopalatodigital syndrome type 2
  • c.3207+10dup Single submitter heterotopia, periventricular, X-linked dominant
  • c.3207+112del Single submitter
  • c.3207+223del Single submitter
  • c.3207+95dup Single submitter
  • c.3208-343G>A Single submitter
  • c.4756-174C>G Single submitter
  • c.5217+18del Single submitter otopalatodigital syndrome type 2
  • c.7333+18G>A Single submitter otopalatodigital syndrome type 2
  • c.7756+20G>T Single submitter otopalatodigital syndrome type 2
  • c.868+221C>T Single submitter
  • c.869-200A>G Single submitter
  • c.-117+80G>T Single submitter
  • c.-21C>G Single submitter
  • c.*84_*85insTG Single submitter
  • p.Ala1095Thr Single submitter Melnick-Needles syndrome
  • p.Ala1201Val Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala2047Gly Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala218Thr Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ala2557Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala877Thr Single submitter otopalatodigital syndrome type 2
  • p.Arg1172Trp Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg1464His Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg2148Cys Single submitter otopalatodigital syndrome type 2
  • p.Arg2201His Single submitter Melnick-Needles syndrome ⚠
  • p.Arg2334His Single submitter Melnick-Needles syndrome ⚠
  • p.Arg437Trp Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Arg467His Single submitter otopalatodigital syndrome type 2
  • p.Arg841Gln Single submitter otopalatodigital syndrome type 2
  • p.Arg884Ser Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg921Gln Single submitter heterotopia, periventricular, X-linked dominant
  • p.Asn2117= Single submitter Melnick-Needles syndrome
  • p.Asp1699Asn Single submitter Melnick-Needles syndrome
  • p.Asp203= Single submitter otopalatodigital syndrome type 2
  • p.Asp337Asn Single submitter frontometaphyseal dysplasia
  • p.Asp825Asn Single submitter frontometaphyseal dysplasia
  • p.Asp970Glu Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Cys1198Arg Single submitter otopalatodigital syndrome type 2
  • p.Gln1182= Single submitter otopalatodigital syndrome type 2
  • p.Glu1130Lys Single submitter otopalatodigital syndrome type 2
  • p.Glu1206= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu1397Lys Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Glu2377= Single submitter otopalatodigital syndrome type 2
  • p.Glu307= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Glu415Lys Single submitter otopalatodigital syndrome type 2
  • p.Glu417Lys Single submitter frontometaphyseal dysplasia
  • p.Glu541Asp Single submitter otopalatodigital syndrome type 2
  • p.Glu573Lys Single submitter Melnick-Needles syndrome ⚠
  • p.Glu600Gln Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1179= Single submitter otopalatodigital syndrome type 2
  • p.Gly1386= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly1420= Single submitter frontometaphyseal dysplasia
  • p.Gly2017Glu Single submitter Melnick-Needles syndrome
  • p.Gly20Cys Single submitter otopalatodigital syndrome type 2
  • p.Gly2441= Single submitter otopalatodigital syndrome type 2
  • p.Gly2551Arg Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly475Asp Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly494= Single submitter otopalatodigital syndrome type 2
  • p.Gly727= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Gly764Ala Single submitter otopalatodigital syndrome type 2
  • p.His1595= Single submitter otopalatodigital syndrome type 2
  • p.His671= Single submitter Melnick-Needles syndrome
  • p.Ile1136Phe Single submitter otopalatodigital syndrome type 2
  • p.Ile2169Thr Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Leu889Phe Single submitter Melnick-Needles syndrome
  • p.Lys1164Arg Single submitter otopalatodigital syndrome type 2
  • p.Lys1294Thr Single submitter otopalatodigital syndrome type 2
  • p.Lys165= Single submitter otopalatodigital syndrome type 2
  • p.Lys1824Asn Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Lys2346= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Lys2515Arg Single submitter heterotopia, periventricular, X-linked dominant
  • p.Pro1085Ser Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Pro1496= Single submitter otopalatodigital syndrome type 2
  • p.Pro1989Leu Single submitter frontometaphyseal dysplasia
  • p.Pro2545Ala Single submitter otopalatodigital syndrome type 2
  • p.Ser1186= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ser1476= Single submitter otopalatodigital syndrome type 2
  • p.Ser2010Pro Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ser2042Leu Single submitter heterotopia, periventricular, X-linked dominant
  • p.Ser2455= Single submitter otopalatodigital syndrome type 2
  • p.Thr1305Met Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr1603Met Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr1713= Single submitter frontometaphyseal dysplasia
  • p.Thr2101Arg Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Thr2627Arg Single submitter otopalatodigital syndrome type 2
  • p.Thr408= Single submitter heterotopia, periventricular, X-linked dominant
  • p.Thr555Met Single submitter heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr839Ala Single submitter otopalatodigital syndrome type 2
  • p.Val1426Ile Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val1500Ala Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val2012Leu Single submitter Melnick-Needles syndrome
  • p.Val2125Met Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val2404Leu Single submitter otopalatodigital syndrome type 2 ⚠
  • p.Val2561= Single submitter Melnick-Needles syndrome
  • p.Val430Ala Single submitter Melnick-Needles syndrome
  • p.Val463Met Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val486Ile Single submitter heterotopia, periventricular, X-linked dominant
  • p.Val736Met Single submitter Melnick-Needles syndrome

Benign/Likely benign 202

  • c.1066-19C>T Multiple submitters frontometaphyseal dysplasia
  • c.1430-16del Multiple submitters Melnick-Needles syndrome
  • c.1568-19G>A Multiple submitters otopalatodigital syndrome type 2
  • c.1692-10G>A Multiple submitters frontometaphyseal dysplasia
  • c.1828+3A>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.1829-10C>T Multiple submitters Melnick-Needles syndrome
  • c.2023-4C>G Multiple submitters Melnick-Needles syndrome
  • c.2281-13del Multiple submitters Melnick-Needles syndrome
  • c.2657-19G>A Multiple submitters Melnick-Needles syndrome
  • c.3207+14G>A Multiple submitters otopalatodigital syndrome type 2
  • c.374-17C>T Multiple submitters Melnick-Needles syndrome
  • c.3805+16G>A Multiple submitters otopalatodigital syndrome type 2
  • c.3979+8_3979+11del Multiple submitters otopalatodigital syndrome type 2
  • c.4142+5_4142+14dup Multiple submitters otopalatodigital syndrome type 2
  • c.4598+8G>C Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4945+12C>T Multiple submitters Melnick-Needles syndrome
  • c.5217+13G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.5217+13G>T Multiple submitters Melnick-Needles syndrome
  • c.5313+4C>T Multiple submitters otopalatodigital syndrome type 2
  • c.6023-10C>G Multiple submitters otopalatodigital syndrome type 2
  • c.6227-10C>T Multiple submitters Melnick-Needles syndrome
  • c.6380-17G>A Multiple submitters Melnick-Needles syndrome
  • c.6502+7G>A Multiple submitters otopalatodigital syndrome type 2
  • c.6503-9A>G Multiple submitters otopalatodigital syndrome type 2
  • c.6770-16A>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6907+14G>T Multiple submitters otopalatodigital syndrome type 2
  • c.6908-14C>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7023+10C>T Multiple submitters otopalatodigital syndrome type 2
  • c.720+12C>T Multiple submitters frontometaphyseal dysplasia
  • c.720+9G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7553-10T>C Multiple submitters frontometaphyseal dysplasia
  • c.7756+19C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7756+20G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7756+8A>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.-19dup Multiple submitters
  • c.-20C>A Multiple submitters
  • p.Ala1141Thr Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala1188= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1252= Multiple submitters Melnick-Needles syndrome
  • p.Ala1636= Multiple submitters terminal osseous dysplasia-pigmentary defects syndrome
  • p.Ala1764Thr Multiple submitters frontometaphyseal dysplasia
  • p.Ala1950= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala1969= Multiple submitters frontometaphyseal dysplasia
  • p.Ala2188= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2389= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2562= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala2570= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala666= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala721= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala786= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala811= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala818Thr Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala843Thr Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg1312His Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg1753Gln Multiple submitters otopalatodigital syndrome type 2
  • p.Arg1845His Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg1993Trp Multiple submitters Melnick-Needles syndrome
  • p.Arg2001Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2051= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg2149Gln Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Arg2643= Multiple submitters Melnick-Needles syndrome
  • p.Arg2643His Multiple submitters Melnick-Needles syndrome
  • p.Arg443Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg443His Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg634Gly Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Arg7Trp Multiple submitters Melnick-Needles syndrome
  • p.Asn1502= Multiple submitters frontometaphyseal dysplasia
  • p.Asn1864= Multiple submitters otopalatodigital syndrome type 2
  • p.Asn2117Ser Multiple submitters Melnick-Needles syndrome
  • p.Asn2312= Multiple submitters frontometaphyseal dysplasia
  • p.Asn2407= Multiple submitters otopalatodigital syndrome type 2
  • p.Asn251= Multiple submitters frontometaphyseal dysplasia
  • p.Asn829Ser Multiple submitters otopalatodigital syndrome type 2
  • p.Asn948Ser Multiple submitters otopalatodigital syndrome type 2
  • p.Asp1048= Multiple submitters Melnick-Needles syndrome
  • p.Asp1444= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1498= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp1527Asn Multiple submitters Melnick-Needles syndrome
  • p.Asp1601= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1970Asn Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp2096= Multiple submitters Melnick-Needles syndrome
  • p.Asp2099= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp217= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp2290= Multiple submitters frontometaphyseal dysplasia
  • p.Asp253= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp605Asn Multiple submitters otopalatodigital syndrome type 2
  • p.Cys2102= Multiple submitters Melnick-Needles syndrome
  • p.Cys2601= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln2172= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu321= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu392= Multiple submitters frontometaphyseal dysplasia
  • p.Gly1267= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1517= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly1526Glu Multiple submitters Melnick-Needles syndrome
  • p.Gly1640= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly1706Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly2236= Multiple submitters Melnick-Needles syndrome
  • p.Gly2330= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2408Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly2502= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly314= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly462= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly562= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly571= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly589= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly603Arg Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly627= Multiple submitters Melnick-Needles syndrome
  • p.His1292= Multiple submitters connective tissue disorder
  • p.His1361= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1730= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.His2058= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2124= Multiple submitters otopalatodigital syndrome type 2
  • p.His364= Multiple submitters Melnick-Needles syndrome
  • p.His5Tyr Multiple submitters frontometaphyseal dysplasia
  • p.His646= Multiple submitters Melnick-Needles syndrome
  • p.His701= Multiple submitters frontometaphyseal dysplasia
  • p.His870Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1596Val Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile2283Leu Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile602= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile827Val Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu1579= Multiple submitters otopalatodigital syndrome type 2
  • p.Lys2217= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Lys529= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Lys569Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys676Arg Multiple submitters Melnick-Needles syndrome
  • p.Lys771= Multiple submitters otopalatodigital syndrome type 2
  • p.Met1316Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe1140= Multiple submitters frontometaphyseal dysplasia
  • p.Phe1886= Multiple submitters otopalatodigital syndrome type 2
  • p.Phe2450= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro1022Ala Multiple submitters otopalatodigital syndrome type 2
  • p.Pro1168= Multiple submitters otopalatodigital syndrome type 2
  • p.Pro1226= Multiple submitters otopalatodigital syndrome type 2
  • p.Pro1244= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Pro1291Leu Multiple submitters Melnick-Needles syndrome
  • p.Pro1348= Multiple submitters otopalatodigital syndrome type 2
  • p.Pro1553= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Pro1631= Multiple submitters Melnick-Needles syndrome
  • p.Pro1773= Multiple submitters Melnick-Needles syndrome
  • p.Pro181= Multiple submitters Melnick-Needles syndrome
  • p.Pro1929= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Pro2423Ser Multiple submitters Melnick-Needles syndrome
  • p.Pro2550= Multiple submitters Melnick-Needles syndrome
  • p.Pro348= Multiple submitters otopalatodigital syndrome type 2
  • p.Pro740= Multiple submitters otopalatodigital syndrome type 2
  • p.Pro817= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser1012= Multiple submitters otopalatodigital syndrome type 2
  • p.Ser1012Leu Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Ser11= Multiple submitters otopalatodigital syndrome type 2
  • p.Ser1123= Multiple submitters Melnick-Needles syndrome
  • p.Ser1187= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser1199= Multiple submitters frontometaphyseal dysplasia
  • p.Ser1411= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser1835= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser1921= Multiple submitters otopalatodigital syndrome type 2
  • p.Ser1991Leu Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Ser2182= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser2455Arg Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser2470= Multiple submitters otopalatodigital syndrome type 2
  • p.Ser2532= Multiple submitters otopalatodigital syndrome type 2
  • p.Ser256= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser959Asn Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Thr1103= Multiple submitters otopalatodigital syndrome type 2
  • p.Thr1129= Multiple submitters otopalatodigital syndrome type 2
  • p.Thr1143= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Thr1174= Multiple submitters connective tissue disorder
  • p.Thr1230= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Thr1305= Multiple submitters frontometaphyseal dysplasia
  • p.Thr1887= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr1986= Multiple submitters Melnick-Needles syndrome
  • p.Thr2016= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr2101= Multiple submitters otopalatodigital syndrome type 2
  • p.Thr2229= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr429Met Multiple submitters frontometaphyseal dysplasia
  • p.Thr555= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Thr572= Multiple submitters otopalatodigital syndrome type 2
  • p.Thr839Met Multiple submitters otopalatodigital syndrome type 2
  • p.Tyr1511= Multiple submitters frontometaphyseal dysplasia
  • p.Tyr1622= Multiple submitters frontometaphyseal dysplasia
  • p.Tyr1720= Multiple submitters otopalatodigital syndrome type 2
  • p.Tyr2571= Multiple submitters Melnick-Needles syndrome
  • p.Tyr287= Multiple submitters frontometaphyseal dysplasia
  • p.Val1124Met Multiple submitters frontometaphyseal dysplasia
  • p.Val1293Ile Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val1582= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1700= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1721Ile Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val1731= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val1828Met Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val1863= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val1943Ile Multiple submitters otopalatodigital syndrome type 2
  • p.Val21= Multiple submitters frontometaphyseal dysplasia
  • p.Val21dup Multiple submitters Melnick-Needles syndrome
  • p.Val2572Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val2572Ile Multiple submitters frontometaphyseal dysplasia
  • p.Val320Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val456Leu Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Val528Met Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Val947Ile Multiple submitters Melnick-Needles syndrome
  • p.Val949Ile Multiple submitters otopalatodigital syndrome type 2
  • p.Val985Ile Multiple submitters heterotopia, periventricular, X-linked dominant

Likely benign 1395

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1065+15del Multiple submitters frontometaphyseal dysplasia
  • c.1065+17G>C Multiple submitters Melnick-Needles syndrome
  • c.1065+17G>T Multiple submitters Melnick-Needles syndrome
  • c.1066-20del Multiple submitters frontometaphyseal dysplasia
  • c.1229-14G>A Multiple submitters Melnick-Needles syndrome
  • c.1229-8C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.1429+20C>G Multiple submitters Melnick-Needles syndrome
  • c.1429+9G>A Multiple submitters otopalatodigital syndrome type 2
  • c.1430-10C>T Multiple submitters Melnick-Needles syndrome
  • c.1430-13C>G Multiple submitters frontometaphyseal dysplasia
  • c.1567+18C>G Multiple submitters frontometaphyseal dysplasia
  • c.1692-11C>T Multiple submitters Melnick-Needles syndrome
  • c.2022+12G>A Multiple submitters otopalatodigital syndrome type 2
  • c.2136+14G>A Multiple submitters frontometaphyseal dysplasia
  • c.2137-19G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2280+17C>T Multiple submitters frontometaphyseal dysplasia
  • c.2280+18G>A Multiple submitters otopalatodigital syndrome type 2
  • c.2280+9A>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2281-282A>G Multiple submitters
  • c.2281-4G>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2405-11C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2405-16C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2405-7G>A Multiple submitters Melnick-Needles syndrome
  • c.2566-15_2566-13del Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2656+14C>G Multiple submitters Melnick-Needles syndrome
  • c.2656+14C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2826+11C>T Multiple submitters frontometaphyseal dysplasia
  • c.2826+20_2826+21del Multiple submitters Melnick-Needles syndrome
  • c.2826+20C>T Multiple submitters otopalatodigital syndrome type 2
  • c.2826+9A>G Multiple submitters otopalatodigital syndrome type 2
  • c.2827-12C>T Multiple submitters Melnick-Needles syndrome
  • c.2827-4C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.2945-11C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.2945-15dup Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.3207+13T>C Multiple submitters Melnick-Needles syndrome
  • c.3208-12T>C Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.3208-9T>C Multiple submitters Melnick-Needles syndrome
  • c.373+10G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.373+10G>T Multiple submitters Melnick-Needles syndrome
  • c.373+19C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4142+10C>T Multiple submitters otopalatodigital syndrome type 2
  • c.4142+17G>A Multiple submitters otopalatodigital syndrome type 2
  • c.4142+19G>A Multiple submitters frontometaphyseal dysplasia
  • c.4143-20C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4143-9T>C Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4303+13C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4303+14G>A Multiple submitters frontometaphyseal dysplasia
  • c.4474+15G>T Multiple submitters otopalatodigital syndrome type 2
  • c.4474+7G>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4475-4C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4599-17A>C Multiple submitters Melnick-Needles syndrome
  • c.4755+9C>T Multiple submitters otopalatodigital syndrome type 2
  • c.4756-13del Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4756-15G>A Multiple submitters Melnick-Needles syndrome
  • c.4945+10C>T Multiple submitters otopalatodigital syndrome type 2
  • c.4945+8C>T Multiple submitters frontometaphyseal dysplasia
  • c.4970-17C>A Multiple submitters Melnick-Needles syndrome
  • c.4970-18C>A Multiple submitters frontometaphyseal dysplasia
  • c.4970-9C>A Multiple submitters otopalatodigital syndrome type 2
  • c.5218-9G>T Multiple submitters frontometaphyseal dysplasia
  • c.5313+18A>G Multiple submitters otopalatodigital syndrome type 2
  • c.5557+12C>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.5557+17T>C Multiple submitters Melnick-Needles syndrome
  • c.5686+13T>C Multiple submitters frontometaphyseal dysplasia
  • c.5687-13C>T Multiple submitters frontometaphyseal dysplasia
  • c.622+10C>T Multiple submitters frontometaphyseal dysplasia
  • c.622+12C>T Multiple submitters otopalatodigital syndrome type 2
  • c.622+16G>A Multiple submitters otopalatodigital syndrome type 2
  • c.622+9G>C Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.623-12C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6379+19C>T Multiple submitters frontometaphyseal dysplasia
  • c.6502+17G>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6770-15A>T Multiple submitters Melnick-Needles syndrome
  • c.6770-8T>C Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6907+13C>T Multiple submitters Melnick-Needles syndrome
  • c.6907+14G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6907+16C>T Multiple submitters Melnick-Needles syndrome
  • c.6908-16C>T Multiple submitters otopalatodigital syndrome type 2
  • c.6908-18del Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7156+11_7156+15del Multiple submitters otopalatodigital syndrome type 2
  • c.7156+20_7156+37del Multiple submitters Melnick-Needles syndrome
  • c.7156+20C>T Multiple submitters frontometaphyseal dysplasia
  • c.720+13G>A Multiple submitters Melnick-Needles syndrome
  • c.720+8C>T Multiple submitters otopalatodigital syndrome type 2
  • c.7333+11C>T Multiple submitters otopalatodigital syndrome type 2
  • c.7333+16C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.7333+17G>T Multiple submitters Melnick-Needles syndrome
  • c.7334-5C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.7756+12G>A Multiple submitters frontometaphyseal dysplasia
  • c.7757-16A>T Multiple submitters otopalatodigital syndrome type 2
  • c.868+19G>A Multiple submitters Melnick-Needles syndrome
  • c.987+12T>C Multiple submitters frontometaphyseal dysplasia
  • c.987+16G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.988-6C>T Multiple submitters frontometaphyseal dysplasia
  • c.988-9C>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.*88C>T Multiple submitters
  • p.Ala1015Val Multiple submitters Melnick-Needles syndrome
  • p.Ala1082= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala1191= Multiple submitters frontometaphyseal dysplasia
  • p.Ala12= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1201= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala1205= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala13= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1448= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala15= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1575= Multiple submitters Melnick-Needles syndrome
  • p.Ala1642= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala1764= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1893= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala197= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala2176= Multiple submitters Melnick-Needles syndrome
  • p.Ala2332= Multiple submitters Melnick-Needles syndrome
  • p.Ala2363= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2457= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala2541Val Multiple submitters Melnick-Needles syndrome
  • p.Ala26= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala30= Multiple submitters otopalatodigital syndrome type 2
  • p.Ala311= Multiple submitters frontometaphyseal dysplasia
  • p.Ala36= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala461= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala501= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala581= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala644= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala745= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala797= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala818= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ala877= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala899= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala902= Multiple submitters Melnick-Needles syndrome
  • p.Arg1532Trp Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg1993Gln Multiple submitters otopalatodigital syndrome type 2
  • p.Arg2073= Multiple submitters otopalatodigital syndrome type 2
  • p.Arg2073Cys Multiple submitters otopalatodigital syndrome type 2
  • p.Arg2333His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg2391= Multiple submitters Melnick-Needles syndrome
  • p.Arg24= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg2484= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg2612= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg2612Gln Multiple submitters Melnick-Needles syndrome
  • p.Arg340= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg437= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg527= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg634= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asn1303= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1733= Multiple submitters Melnick-Needles syndrome
  • p.Asn1881= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn1915= Multiple submitters otopalatodigital syndrome type 2
  • p.Asn1939= Multiple submitters
  • p.Asn2358= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn2587= Multiple submitters Melnick-Needles syndrome
  • p.Asn336= Multiple submitters otopalatodigital syndrome type 2
  • p.Asn396= Multiple submitters Melnick-Needles syndrome
  • p.Asn728Ser Multiple submitters Melnick-Needles syndrome
  • p.Asn756= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn770= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp1116= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1159= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1281= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp131= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp1332= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1407= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp156= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1571= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1574= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp1611= Multiple submitters frontometaphyseal dysplasia
  • p.Asp1625= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1641= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1699= Multiple submitters Melnick-Needles syndrome
  • p.Asp1705= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1825= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp1917= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1955= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp2074= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp2074Asn Multiple submitters otopalatodigital syndrome type 2
  • p.Asp2091= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp2287= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp2365= Multiple submitters Melnick-Needles syndrome
  • p.Asp2403= Multiple submitters frontometaphyseal dysplasia
  • p.Asp2467= Multiple submitters frontometaphyseal dysplasia
  • p.Asp2556= Multiple submitters otopalatodigital syndrome type 2
  • p.Asp2634= Multiple submitters frontometaphyseal dysplasia
  • p.Asp34= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp375= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp38= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp380= Multiple submitters Melnick-Needles syndrome
  • p.Asp605= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp624= Multiple submitters Melnick-Needles syndrome
  • p.Asp665= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp673= Multiple submitters Melnick-Needles syndrome
  • p.Asp713= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp803= Multiple submitters Melnick-Needles syndrome
  • p.Asp908= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp954= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp984= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys1920= Multiple submitters frontometaphyseal dysplasia
  • p.Cys444= Multiple submitters Melnick-Needles syndrome
  • p.Cys733= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Cys796= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln1310Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln2219= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln230= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln378= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gln86= Multiple submitters otopalatodigital syndrome type 2
  • p.Glu1021= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu2059= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu2249= Multiple submitters otopalatodigital syndrome type 2
  • p.Glu2376= Multiple submitters Melnick-Needles syndrome
  • p.Glu254= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu587= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu788= Multiple submitters Melnick-Needles syndrome
  • p.Gly1002= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly1132= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly1167= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1227= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly1290= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1313= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly1337= Multiple submitters Melnick-Needles syndrome
  • p.Gly1352= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly14= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly1559= Multiple submitters Melnick-Needles syndrome
  • p.Gly1766= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly1853= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly1954= Multiple submitters Melnick-Needles syndrome
  • p.Gly20= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly2005= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2027= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2078= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly2424= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly2442= Multiple submitters Melnick-Needles syndrome
  • p.Gly2502Ser Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Gly2553= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly312= Multiple submitters Melnick-Needles syndrome
  • p.Gly390= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Gly452= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly509= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly536= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly702= Multiple submitters Melnick-Needles syndrome
  • p.Gly751= Multiple submitters otopalatodigital syndrome type 2
  • p.Gly813= Multiple submitters Melnick-Needles syndrome
  • p.Gly879= Multiple submitters Melnick-Needles syndrome
  • p.Gly946= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His1153= Multiple submitters otopalatodigital syndrome type 2
  • p.His1217= Multiple submitters otopalatodigital syndrome type 2
  • p.His147= Multiple submitters otopalatodigital syndrome type 2
  • p.His1543= Multiple submitters frontometaphyseal dysplasia
  • p.His1840= Multiple submitters Melnick-Needles syndrome
  • p.His1942= Multiple submitters frontometaphyseal dysplasia
  • p.His2006= Multiple submitters otopalatodigital syndrome type 2
  • p.His2029= Multiple submitters otopalatodigital syndrome type 2
  • p.His2425= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2528= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2608= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His2636= Multiple submitters otopalatodigital syndrome type 2
  • p.His457= Multiple submitters otopalatodigital syndrome type 2
  • p.His743= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His787= Multiple submitters Melnick-Needles syndrome
  • p.His90= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1138= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile1219= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile129= Multiple submitters frontometaphyseal dysplasia
  • p.Ile1415= Multiple submitters frontometaphyseal dysplasia
  • p.Ile1570= Multiple submitters otopalatodigital syndrome type 2
  • p.Ile1618= Multiple submitters otopalatodigital syndrome type 2
  • p.Ile1620= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile1851= Multiple submitters Melnick-Needles syndrome
  • p.Ile2070Val Multiple submitters Melnick-Needles syndrome
  • p.Ile2092= Multiple submitters Melnick-Needles syndrome
  • p.Ile2115= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile2169= Multiple submitters otopalatodigital syndrome type 2
  • p.Ile2190= Multiple submitters frontometaphyseal dysplasia
  • p.Ile2507Val Multiple submitters Melnick-Needles syndrome
  • p.Ile2604= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile291= Multiple submitters otopalatodigital syndrome type 2
  • p.Ile365= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile551= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile561= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile621= Multiple submitters frontometaphyseal dysplasia
  • p.Ile78= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile862Val Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ile925= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile926= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu111= Multiple submitters Melnick-Needles syndrome
  • p.Leu1112= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu136= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu172= Multiple submitters Melnick-Needles syndrome
  • p.Leu1741= Multiple submitters otopalatodigital syndrome type 2
  • p.Leu1875= Multiple submitters Melnick-Needles syndrome
  • p.Leu1898= Multiple submitters Melnick-Needles syndrome
  • p.Leu1963= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu198= Multiple submitters otopalatodigital syndrome type 2
  • p.Leu2082= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu2097= Multiple submitters Melnick-Needles syndrome
  • p.Leu2345= Multiple submitters otopalatodigital syndrome type 2
  • p.Leu2375= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu2521= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu490= Multiple submitters Melnick-Needles syndrome
  • p.Leu784= Multiple submitters Melnick-Needles syndrome
  • p.Leu80= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu81= Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Leu907= Multiple submitters otopalatodigital syndrome type 2

Uncertain significance 1470

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2022+6G>A Multiple submitters otopalatodigital syndrome type 2
  • c.2826+4G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.3979+4C>T Multiple submitters otopalatodigital syndrome type 2
  • c.4474+3G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.4474+3G>T Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.5557+6C>T Multiple submitters otopalatodigital syndrome type 2
  • c.5558-12T>C Multiple submitters otopalatodigital syndrome type 2
  • c.623-3C>G Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6769+4G>A Multiple submitters heterotopia, periventricular, X-linked dominant
  • c.6769+5G>C Multiple submitters frontometaphyseal dysplasia
  • c.6907+3A>C Multiple submitters Melnick-Needles syndrome
  • c.720+4C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala1061Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1072Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala1086Thr Multiple submitters FG syndrome 2 ⚠
  • p.Ala1160Thr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala1419Thr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala1448Gly Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala15Glu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ala163Thr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala16Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala1740Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala2332Thr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala2363Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala2363Val Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ala2434Val Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala2461Thr Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala26Thr Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ala273Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala366Thr Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Ala381Thr Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala477Pro Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ala477Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala619Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala661Thr Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ala786Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala786Thr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1272His Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Arg1312Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1515Gln Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg1615Cys Multiple submitters connective tissue disorder ⚠
  • p.Arg1725Cys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg1789Lys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg1809Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg1951Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2049Cys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg2049His Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Arg2051Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Arg2051Trp Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg2146His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg2149Trp Multiple submitters ⚠
  • p.Arg2264Gln Multiple submitters ⚠
  • p.Arg226Gln Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg24Gly Multiple submitters FLNA-related disorder ⚠
  • p.Arg24Trp Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Arg285Cys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg340Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg496Trp Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg580Gln Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Arg63Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg664His Multiple submitters Melnick-Needles syndrome ⚠
  • p.Arg678His Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg828His Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Arg863Gln Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Asn1374Lys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asn1864Thr Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asn1939Asp Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asn2093Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn2155Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn931Ile Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1404Gly Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Asp1692_Asp1697dup Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Asp1709Tyr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp1979Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Asp2122Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp2318Asn Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asp2365Asn Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp2475Asn Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asp653Gly Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Asp669Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Asp673Glu Multiple submitters FLNA-related disorder ⚠
  • p.Asp698Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp922His Multiple submitters Melnick-Needles syndrome ⚠
  • p.Asp930Asn Multiple submitters Melnick-Needles syndrome ⚠
  • p.Cys1114Trp Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Cys1122Gly Multiple submitters otopalatodigital syndrome type 1 ⚠
  • p.Cys1912Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys2479Phe Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Cys2601Tyr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Cys444Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Cys574Phe Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gln1078His Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gln1507Arg Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gln182His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln638Arg Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gln941Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Glu1113Lys Multiple submitters Melnick-Needles syndrome
  • p.Glu1413Lys Multiple submitters ⚠
  • p.Glu1577Gly Multiple submitters intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
  • p.Glu159del Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Glu1729Lys Multiple submitters
  • p.Glu1836Lys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Glu1995Lys Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu2189Lys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Glu2235Asp Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Glu2252Lys Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Glu2382Asp Multiple submitters Melnick-Needles syndrome
  • p.Glu2440Lys Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Glu2478Lys Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Glu328Gln Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Glu32Gly Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Glu32Lys Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Glu371Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu600Gly Multiple submitters Melnick-Needles syndrome ⚠
  • p.Glu878Lys Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1083Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly1096Cys Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1290Ala Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly1362Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly1408Ser Multiple submitters ⚠
  • p.Gly1457Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly1492Asp Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly1657Asp Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly1779Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly20Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly2112Asp Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly2245Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly2408Val Multiple submitters otopalatodigital syndrome type 2
  • p.Gly2503Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly379Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly452Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly452Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly524Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly727Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Gly842Arg Multiple submitters Melnick-Needles syndrome ⚠
  • p.Gly903Asp Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly943Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Gly978Asp Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His1212Tyr Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His1867Tyr Multiple submitters Melnick-Needles syndrome ⚠
  • p.His2124Gln Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His457Gln Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His56Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His56Gln Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.His56Tyr Multiple submitters otopalatodigital syndrome type 1 ⚠
  • p.His743Arg Multiple submitters cardiac valvular dysplasia, X-linked ⚠
  • p.Ile1265Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile1365Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ile1415Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile1415Val Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Ile2069Thr Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ile602Val Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ile822Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Leu1139Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu1224Phe Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Leu1467Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu1467His Multiple submitters Melnick-Needles syndrome ⚠
  • p.Leu1752Pro Multiple submitters Melnick-Needles syndrome ⚠
  • p.Leu1999Pro Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Lys1007Asn Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Lys1164Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Lys1375Arg Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Lys1549Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Lys1593Thr Multiple submitters Melnick-Needles syndrome ⚠
  • p.Lys165Arg Multiple submitters intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked ⚠
  • p.Lys2165Gln Multiple submitters otopalatodigital syndrome type 2
  • p.Lys2310Gln Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Lys300Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys331Glu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Lys493Asn Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Lys531del Multiple submitters otopalatodigital syndrome type 2
  • p.Lys531Met Multiple submitters Melnick-Needles syndrome ⚠
  • p.Lys891Glu Multiple submitters frontometaphyseal dysplasia
  • p.Lys916Met Multiple submitters ⚠
  • p.Met154Ile Multiple submitters
  • p.Met1810Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Met1849Val Multiple submitters FLNA-related disorder ⚠
  • p.Met1958Arg Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Met545Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met849Val Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Phe1711del Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe1711Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe2259Ser Multiple submitters Macrothrombocytopenia ⚠
  • p.Phe2353Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Phe99Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1075Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro1168Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Pro1395Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro1456Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro1561Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Pro17Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro181Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro1905Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro2036Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro2065Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Pro2129Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro2302Ser Multiple submitters Melnick-Needles syndrome ⚠
  • p.Pro2394Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro2415Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro2429Ser Multiple submitters ⚠
  • p.Pro2469Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro2545Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro277Leu Multiple submitters Melnick-Needles syndrome
  • p.Pro281Ala Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Pro281Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro389Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro423Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro448Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro448Thr Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Pro466Ser Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro469Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Pro544Arg Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro858Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Pro868Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ser1012Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser1081Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser1123Cys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ser1256Pro Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ser1514Gly Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ser1551Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser1630Phe Multiple submitters otopalatodigital syndrome type 1 ⚠
  • p.Ser1747_Pro1750del Multiple submitters heterotopia, periventricular, X-linked dominant
  • p.Ser1754Phe Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ser1991Pro Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ser2048Arg Multiple submitters otopalatodigital syndrome type 2
  • p.Ser2088Asn Multiple submitters ⚠
  • p.Ser2292Phe Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ser2338Phe Multiple submitters frontometaphyseal dysplasia
  • p.Ser2463Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Ser2463Thr Multiple submitters Melnick-Needles syndrome ⚠
  • p.Ser2Cys Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Ser61Asn Multiple submitters FLNA-related disorder ⚠
  • p.Ser61Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser805Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1322Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1385Met Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Thr143Ile Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr1605Lys Multiple submitters Melnick-Needles syndrome ⚠
  • p.Thr1646Ala Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Thr1646Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr1739Met Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Thr1887Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr2072Ile Multiple submitters Melnick-Needles syndrome ⚠
  • p.Thr2101Met Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Thr2599Ile Multiple submitters ⚠
  • p.Thr351Met Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr401Ile Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr459Ala Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr50Arg Multiple submitters ⚠
  • p.Thr553Ala Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr608Met Multiple submitters Melnick-Needles syndrome ⚠
  • p.Thr685Arg Multiple submitters Melnick-Needles syndrome ⚠
  • p.Thr730Ile Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Thr896Ile Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Thr98Ala Multiple submitters Melnick-Needles syndrome ⚠
  • p.Trp2632Cys Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Trp2632Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp41Leu Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Tyr1041Cys Multiple submitters intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked ⚠
  • p.Tyr1422Cys Multiple submitters cardiac valvular dysplasia, X-linked ⚠
  • p.Tyr1428Cys Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Tyr1525Cys Multiple submitters FLNA-related disorder ⚠
  • p.Tyr1712His Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Tyr2379Cys Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Tyr2614His Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Tyr403Ser Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Tyr543Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr735His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val1020= Multiple submitters Melnick-Needles syndrome
  • p.Val1043Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val1163= Multiple submitters otopalatodigital syndrome type 2
  • p.Val1163Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val1392Ile Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Val1412Ile Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val1445Gly Multiple submitters FLNA-related disorder ⚠
  • p.Val1480Met Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val1485Ile Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Val1509Ile Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val1530Ala Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val1609Met Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val1688Gly Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val1748Met Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Val1778Glu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val2050Ala Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Val2178Leu Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val21Phe Multiple submitters frontometaphyseal dysplasia ⚠
  • p.Val2399Ile Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val2560Ala Multiple submitters otopalatodigital syndrome type 2 ⚠
  • p.Val2560Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val2616Ala Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val2616Met Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val316Met Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val320Leu Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val463Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val537Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val591Ala Multiple submitters Melnick-Needles syndrome ⚠
  • p.Val598Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val606Met Multiple submitters heterotopia, periventricular, X-linked dominant ⚠
  • p.Val709Phe Multiple submitters ⚠
  • p.Val752Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠