GHRHR — 340 ClinVar variants
All ClinVar germline GHRHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
19 Pathogenic · 7 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 20 Conflicting · 31 Benign · 8 Benign/Likely benign · 117 Likely benign · 125 Uncertain significance
Full GHRHR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GHRHR p.Arg94Gln
Pathogenic/Likely pathogenic
Multiple submitters
isolated growth hormone deficiency, type 4
-
GHRHR p.Val10Asp
Likely pathogenic
Single submitter
Pituitary hormone deficiency
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GHRHR p.Ala120Val
Conflicting
Single submitter
Inborn genetic diseases
-
GHRHR p.His194Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro16Leu
Conflicting
Single submitter
isolated growth hormone deficiency type IB
-
GHRHR p.Thr171Ser
Conflicting
Single submitter
isolated growth hormone deficiency type IB
-
GHRHR p.Thr67Met
Conflicting
Single submitter
Inborn genetic diseases
-
GHRHR p.Val10Ile
Conflicting
Single submitter
Inborn genetic diseases
-
GHRHR p.Val164Ile
Conflicting
Single submitter
isolated growth hormone deficiency type IB
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GHRHR p.Ala207Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Ala271Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHRHR p.Arg3His Uncertain significance Multiple submitters
-
GHRHR p.Arg403Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Arg405Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Arg4Trp
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
-
GHRHR p.Asp276Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHRHR p.Cys423Tyr Uncertain significance Multiple submitters
-
GHRHR p.Gly251Glu
Uncertain significance
Multiple submitters
isolated growth hormone deficiency, type 4
- GHRHR p.Leu174Phe Uncertain significance Multiple submitters
-
GHRHR p.Leu337Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Phe172Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Pro18Leu
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
-
GHRHR p.Ser292Trp
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
-
GHRHR p.Ser414Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Ser70Ala
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
- GHRHR p.Trp273Arg Uncertain significance Multiple submitters
- GHRHR p.Val10Gly Uncertain significance Multiple submitters
- GHRHR p.Val110Met Uncertain significance Multiple submitters
-
GHRHR p.Val129Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GHRHR p.Val146Met Uncertain significance Multiple submitters
- GHRHR p.Ala153Val Uncertain significance Single submitter
-
GHRHR p.Ala184Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Ala208Thr Uncertain significance Single submitter
-
GHRHR p.Ala248Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Ala248Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Ala266Thr Uncertain significance Single submitter
-
GHRHR p.Ala271Val
Uncertain significance
Single submitter
isolated growth hormone deficiency type IB
-
GHRHR p.Ala314Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Ala416Thr Uncertain significance Single submitter
-
GHRHR p.Ala57Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Arg413Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Arg413His Uncertain significance Single submitter
- GHRHR p.Arg4Gln Uncertain significance Single submitter
- GHRHR p.Asn162Asp Uncertain significance Single submitter
- GHRHR p.Asn296Ser Uncertain significance Single submitter
- GHRHR p.Asp193Asn Uncertain significance Single submitter
-
GHRHR p.Asp269Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Asp29Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Asp350Gly Uncertain significance Single submitter
- GHRHR p.Asp95His Uncertain significance Single submitter
- GHRHR p.Cys263Phe Uncertain significance Single submitter
- GHRHR p.Glu382Gly Uncertain significance Single submitter
- GHRHR p.Gly369Val Uncertain significance Single submitter
-
GHRHR p.His194Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.His23Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Ile141Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Ile343Leu Uncertain significance Single submitter
- GHRHR p.Leu118Met Uncertain significance Single submitter
-
GHRHR p.Leu318Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Met214Val
Uncertain significance
Single submitter
isolated growth hormone deficiency type IB
- GHRHR p.Met5Ile Uncertain significance Single submitter
-
GHRHR p.Met5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Phe333Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro104Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro160Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro236Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro236Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Pro280Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Pro288Leu Uncertain significance Single submitter
-
GHRHR p.Pro288Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Pro359Leu Uncertain significance Single submitter
- GHRHR p.Pro79Leu Uncertain significance Single submitter
- GHRHR p.Ser196Arg Uncertain significance Single submitter
- GHRHR p.Ser330Leu Uncertain significance Single submitter
- GHRHR p.Ser39Arg Uncertain significance Single submitter
-
GHRHR p.Ser39Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Ser70Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Ser86Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Thr234Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Thr75Asn Uncertain significance Single submitter
-
GHRHR p.Trp101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Tyr324Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Val13Met
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Val142Ala Uncertain significance Single submitter
-
GHRHR p.Val254Met
Uncertain significance
Single submitter
isolated growth hormone deficiency type IB
-
GHRHR p.Val261Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 18
The independent predictors disagree with each other — read with care.
-
GHRHR p.Ala153Asp
Pathogenic/Likely pathogenic
Multiple submitters
isolated growth hormone deficiency, type 4
-
GHRHR p.Arg305His
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
-
GHRHR p.Arg326Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GHRHR p.Arg389Trp
Uncertain significance
Multiple submitters
isolated growth hormone deficiency type IB
-
GHRHR p.Phe169Leu
Pathogenic/Likely pathogenic
Multiple submitters
isolated growth hormone deficiency, type 4
- GHRHR p.Ala184Pro Uncertain significance Single submitter
-
GHRHR p.Arg305Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.Glu72Lys
Uncertain significance
Single submitter
isolated growth hormone deficiency, type 4
- GHRHR p.Gly363Arg Uncertain significance Single submitter
-
GHRHR p.His158Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- GHRHR p.Phe105Leu Uncertain significance Single submitter
- GHRHR p.Phe370Leu Uncertain significance Single submitter
- GHRHR p.Phe85Leu Uncertain significance Single submitter
- GHRHR p.Pro77Leu Uncertain significance Single submitter
- GHRHR p.Ser205Phe Uncertain significance Single submitter
-
GHRHR p.Ser292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GHRHR p.His165Gln
Likely pathogenic
No assertion criteria
isolated growth hormone deficiency type IB
-
GHRHR p.Lys329Glu
Pathogenic
No assertion criteria
isolated growth hormone deficiency, type 4
All GHRHR variants
Pathogenic 19
- c.57+1G>A Multiple submitters isolated growth hormone deficiency, type 4
- p.Arg357Cys Multiple submitters isolated growth hormone deficiency, type 4
- p.Glu72Ter Multiple submitters isolated growth hormone deficiency, type 4
- p.Leu364fs Multiple submitters GHRHR-related disorder
- c.160+1G>T Single submitter
- c.161-1G>A Single submitter GHRHR-related disorder
- c.367-1G>A Single submitter Pituitary hormone deficiency
- p.Ala8fs Single submitter
- p.Gln368Ter Single submitter Pituitary hormone deficiency
- p.Leu154fs Single submitter
- p.Thr97fs Single submitter
- p.Trp244Ter Single submitter isolated growth hormone deficiency, type 4
- p.Trp283Ter Single submitter
- p.Trp65Ter Single submitter
- p.Tyr226fs Single submitter
- p.Ala222Glu No assertion criteria isolated growth hormone deficiency, type 4
- p.Gln323Ter No assertion criteria isolated growth hormone deficiency, type 4
- p.Lys329Glu No assertion criteria isolated growth hormone deficiency, type 4 ⚠
- p.Phe242Cys No assertion criteria isolated growth hormone deficiency, type 4
Pathogenic/Likely pathogenic 7
- p.Ala153Asp Multiple submitters isolated growth hormone deficiency, type 4 ⚠
- p.Arg161Trp Multiple submitters isolated growth hormone deficiency, type 4
- p.Arg94Gln Multiple submitters isolated growth hormone deficiency, type 4 ⚠
- p.Arg94Trp Multiple submitters isolated growth hormone deficiency, type 4
- p.Glu382= Multiple submitters GHRHR-related disorder
- p.Leu144His Multiple submitters isolated growth hormone deficiency, type 4
- p.Phe169Leu Multiple submitters isolated growth hormone deficiency, type 4 ⚠
Likely pathogenic 13
- p.Ala176Val Multiple submitters isolated growth hormone deficiency, type 4
- c.465-1G>A Single submitter isolated growth hormone deficiency, type 4
- c.812+2_812+3del Single submitter isolated growth hormone deficiency, type 4
- c.975-2A>G Single submitter GHRHR-related disorder
- p.Glu123Ter Single submitter isolated growth hormone deficiency, type 4
- p.Ile374fs Single submitter isolated growth hormone deficiency, type 4
- p.Leu360fs Single submitter GHRHR-related disorder
- p.Phe187fs Single submitter isolated growth hormone deficiency, type 4
- p.Ser87Ter Single submitter isolated growth hormone deficiency, type 4
- p.Trp283Arg Single submitter isolated growth hormone deficiency, type 4
- p.Val10Asp Single submitter Pituitary hormone deficiency ⚠
- p.His165Gln No assertion criteria isolated growth hormone deficiency type IB ⚠
- p.Ser140Pro No assertion criteria isolated growth hormone deficiency type IB
Conflicting classifications of pathogenicity 20
- c.1105-14C>G Single submitter isolated growth hormone deficiency type IB
- c.751+12G>A Single submitter isolated growth hormone deficiency type IB
- c.812+12C>T Single submitter isolated growth hormone deficiency type IB
- c.975-6C>A Single submitter isolated growth hormone deficiency type IB
- p.Ala120Val Single submitter Inborn genetic diseases ⚠
- p.Asp2= Single submitter isolated growth hormone deficiency type IB
- p.Glu46= Single submitter
- p.His194Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile31= Single submitter isolated growth hormone deficiency type IB
- p.Leu247= Single submitter isolated growth hormone deficiency type IB
- p.Pro16Leu Single submitter isolated growth hormone deficiency type IB ⚠
- p.Pro79= Single submitter isolated growth hormone deficiency type IB
- p.Ser414= Single submitter isolated growth hormone deficiency type IB
- p.Thr171Ser Single submitter isolated growth hormone deficiency type IB ⚠
- p.Thr67Met Single submitter Inborn genetic diseases ⚠
- p.Tyr163= Single submitter isolated growth hormone deficiency type IB
- p.Val10Ile Single submitter Inborn genetic diseases ⚠
- p.Val164Ile Single submitter isolated growth hormone deficiency type IB ⚠
- p.Val290= Single submitter
- p.Val295= Single submitter
Benign 31
- c.1104+20C>T Multiple submitters
- c.366+13T>G Multiple submitters Idiopathic growth hormone deficiency
- c.598-10T>C Multiple submitters isolated growth hormone deficiency type IB
- c.751+16G>T Multiple submitters
- c.882+18T>A Multiple submitters
- c.-45C>T Multiple submitters isolated growth hormone deficiency type IB
- c.*221T>C Multiple submitters isolated growth hormone deficiency type IB
- p.Ala57Thr Multiple submitters Idiopathic growth hormone deficiency
- p.Glu121Asp Multiple submitters Idiopathic growth hormone deficiency
- p.His188= Multiple submitters Idiopathic growth hormone deficiency
- c.1146+166G>C Single submitter
- c.160+56C>T Single submitter
- c.268+112C>T Single submitter
- c.268+267C>G Single submitter
- c.269-26G>T Single submitter
- c.366+153T>C Single submitter
- c.465-229G>T Single submitter
- c.465-93A>G Single submitter
- c.57+221A>G Single submitter
- c.57+298G>A Single submitter
- c.57+79C>T Single submitter
- c.597+293C>T Single submitter
- c.598-3del Single submitter
- c.751+104G>T Single submitter
- c.813-137T>C Single submitter
- c.974+214C>G Single submitter
- c.974+82T>G Single submitter
- c.975-165G>A Single submitter
- c.975-204G>T Single submitter
- c.975-26G>A Single submitter
- p.Phe338= Single submitter
Benign/Likely benign 8
- c.751+18G>T Multiple submitters
- c.812+8G>A Multiple submitters
- c.813-18T>C Multiple submitters
- c.975-18G>A Multiple submitters
- p.Ala57= Multiple submitters
- p.Ala91Val Multiple submitters isolated growth hormone deficiency type IB
- p.Met422Thr Multiple submitters isolated growth hormone deficiency type IB
- p.Val225Ile Multiple submitters isolated growth hormone deficiency type IB
Likely benign 117
- c.1146+19T>C Multiple submitters
- c.1147-8C>T Multiple submitters
- c.752-13T>C Multiple submitters
- c.975-9T>C Multiple submitters
- c.*147A>C Multiple submitters isolated growth hormone deficiency type IB
- c.*236C>A Multiple submitters isolated growth hormone deficiency type IB
- p.Gly100= Multiple submitters
- p.Leu118= Multiple submitters
- p.Leu348= Multiple submitters
- p.Pro109= Multiple submitters
- p.Pro18= Multiple submitters
- p.Ser292= Multiple submitters Inborn genetic diseases
- p.Thr67= Multiple submitters
- c.1105-10G>C Single submitter
- c.1105-11T>C Single submitter
- c.1105-4A>C Single submitter
- c.1105-9G>T Single submitter
- c.160+10C>A Single submitter
- c.160+8G>A Single submitter
- c.161-17C>T Single submitter
- c.161-18T>C Single submitter
- c.161-4C>T Single submitter
- c.268+11del Single submitter
- c.268+17G>A Single submitter
- c.269-12C>T Single submitter
- c.269-13G>A Single submitter
- c.269-3del Single submitter
- c.366+15G>A Single submitter
- c.367-12T>G Single submitter
- c.464+17A>G Single submitter
- c.464+8A>G Single submitter
- c.465-6C>G Single submitter
- c.57+17G>C Single submitter
- c.57+19C>A Single submitter
- c.58-14A>G Single submitter
- c.58-15C>G Single submitter
- c.597+7G>T Single submitter
- c.598-7C>A Single submitter
- c.598-8G>C Single submitter
- c.751+15C>G Single submitter
- c.751+17G>A Single submitter
- c.751+18G>A Single submitter
- c.752-14C>T Single submitter
- c.752-7C>T Single submitter
- c.812+11G>A Single submitter
- c.812+13G>A Single submitter
- c.812+20T>C Single submitter
- c.812+7C>T Single submitter
- c.882+10T>C Single submitter
- c.882+12G>C Single submitter
- c.882+19G>A Single submitter
- c.882+20C>A Single submitter
- c.882+7C>T Single submitter
- c.883-16A>G Single submitter
- c.883-19C>G Single submitter
- c.883-19C>T Single submitter
- c.974+14G>A Single submitter
- c.975-18G>T Single submitter
- p.Ala176= Single submitter
- p.Ala415= Single submitter
- p.Ala415Val Single submitter
- p.Ala44= Single submitter
- p.Arg35= Single submitter
- p.Arg357= Single submitter
- p.Arg94= Single submitter
- p.Asn380= Single submitter
- p.Asp191Asn Single submitter Inborn genetic diseases
- p.Asp276= Single submitter
- p.Cys112= Single submitter
- p.Cys229= Single submitter
- p.Cys263= Single submitter
- p.Gly249= Single submitter
- p.Gly339= Single submitter
- p.His9= Single submitter
- p.Ile131= Single submitter
- p.Ile132Val Single submitter Inborn genetic diseases
- p.Ile139= Single submitter
- p.Ile141Val Single submitter Inborn genetic diseases
- p.Ile270= Single submitter
- p.Ile335= Single submitter
- p.Leu157= Single submitter
- p.Leu168= Single submitter
- p.Leu21= Single submitter
- p.Leu220= Single submitter
- p.Leu252= Single submitter
- p.Leu291= Single submitter
- p.Leu299= Single submitter
- p.Leu332= Single submitter
- p.Leu354= Single submitter
- p.Leu358= Single submitter
- p.Leu362= Single submitter
- p.Leu42= Single submitter
- p.Phe145= Single submitter
- p.Phe187= Single submitter
- p.Phe211= Single submitter
- p.Phe267= Single submitter
- p.Phe300= Single submitter
- p.Pro104= Single submitter
- p.Pro253= Single submitter
- p.Pro288= Single submitter
- p.Pro77= Single submitter
- p.Ser235= Single submitter
- p.Ser279= Single submitter
- p.Ser330= Single submitter
- p.Ser39= Single submitter
- p.Thr128= Single submitter
- p.Thr134= Single submitter
- p.Thr259= Single submitter
- p.Thr385= Single submitter
- p.Thr410Met Single submitter Inborn genetic diseases
- p.Thr51Ala Single submitter isolated growth hormone deficiency type IB
- p.Thr58= Single submitter
- p.Thr75= Single submitter
- p.Tyr133= Single submitter
- p.Tyr342= Single submitter
- p.Val135= Single submitter
- p.Val293= Single submitter
Uncertain significance 125
- c.1146+4T>A Multiple submitters
- p.Ala207Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala271Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg305His Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Arg326Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg389Trp Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Arg3His Multiple submitters ⚠
- p.Arg403Met Multiple submitters Inborn genetic diseases ⚠
- p.Arg405Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Trp Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Asp276Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys423Tyr Multiple submitters ⚠
- p.Gly251Glu Multiple submitters isolated growth hormone deficiency, type 4 ⚠
- p.Leu174Phe Multiple submitters ⚠
- p.Leu337Phe Multiple submitters Inborn genetic diseases ⚠
- p.Phe172Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro18Leu Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Ser292Trp Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Ser414Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser70Ala Multiple submitters isolated growth hormone deficiency type IB ⚠
- p.Trp273Arg Multiple submitters ⚠
- p.Val10Gly Multiple submitters ⚠
- p.Val110Met Multiple submitters ⚠
- p.Val129Met Multiple submitters Inborn genetic diseases ⚠
- p.Val146Met Multiple submitters ⚠
- c.1104+6G>A Single submitter
- c.1105-3C>A Single submitter
- c.1105-6C>A Single submitter
- c.1146+1G>T Single submitter
- c.1146+3G>A Single submitter
- c.161-11T>C Single submitter
- c.597+7G>A Single submitter
- c.882+11G>A Single submitter isolated growth hormone deficiency type IB
- c.974+15T>G Single submitter isolated growth hormone deficiency type IB
- c.974+9T>A Single submitter
- c.-14C>T Single submitter
- c.*198C>A Single submitter isolated growth hormone deficiency type IB
- c.*29A>G Single submitter isolated growth hormone deficiency type IB
- c.*51C>T Single submitter isolated growth hormone deficiency type IB
- c.*6C>G Single submitter
- c.*88T>A Single submitter isolated growth hormone deficiency type IB
- p.Ala153Val Single submitter ⚠
- p.Ala184Pro Single submitter ⚠
- p.Ala184Val Single submitter Inborn genetic diseases ⚠
- p.Ala208Thr Single submitter ⚠
- p.Ala248Thr Single submitter Inborn genetic diseases ⚠
- p.Ala248Val Single submitter Inborn genetic diseases ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala271Val Single submitter isolated growth hormone deficiency type IB ⚠
- p.Ala314Ser Single submitter Inborn genetic diseases ⚠
- p.Ala416Thr Single submitter ⚠
- p.Ala57Val Single submitter Inborn genetic diseases ⚠
- p.Arg305Cys Single submitter Inborn genetic diseases ⚠
- p.Arg413Cys Single submitter Inborn genetic diseases ⚠
- p.Arg413His Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Asn162Asp Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asp193Asn Single submitter ⚠
- p.Asp269Asn Single submitter Inborn genetic diseases ⚠
- p.Asp274Tyr Single submitter Inborn genetic diseases
- p.Asp29Val Single submitter Inborn genetic diseases ⚠
- p.Asp350Gly Single submitter ⚠
- p.Asp95His Single submitter ⚠
- p.Cys263Phe Single submitter ⚠
- p.Glu268Lys Single submitter Inborn genetic diseases
- p.Glu382Gly Single submitter ⚠
- p.Glu47del Single submitter
- p.Glu72Lys Single submitter isolated growth hormone deficiency, type 4 ⚠
- p.Gly363Arg Single submitter ⚠
- p.Gly369Val Single submitter ⚠
- p.Gly61Trp Single submitter
- p.Gly71= Single submitter
- p.His158Tyr Single submitter Inborn genetic diseases ⚠
- p.His194Arg Single submitter Inborn genetic diseases ⚠
- p.His23Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile141Thr Single submitter Inborn genetic diseases ⚠
- p.Ile289Thr Single submitter Inborn genetic diseases
- p.Ile343Leu Single submitter ⚠
- p.Leu118Met Single submitter ⚠
- p.Leu318Pro Single submitter Inborn genetic diseases ⚠
- p.Leu398fs Single submitter
- p.Lys417fs Single submitter
- p.Lys93= Single submitter isolated growth hormone deficiency type IB
- p.Met1Leu Single submitter
- p.Met214Val Single submitter isolated growth hormone deficiency type IB ⚠
- p.Met5Ile Single submitter ⚠
- p.Met5Thr Single submitter Inborn genetic diseases ⚠
- p.Phe105Leu Single submitter ⚠
- p.Phe126Ser Single submitter Inborn genetic diseases
- p.Phe333Cys Single submitter Inborn genetic diseases ⚠
- p.Phe333Tyr Single submitter Inborn genetic diseases
- p.Phe370Leu Single submitter ⚠
- p.Phe85Leu Single submitter ⚠
- p.Pro104Ala Single submitter Inborn genetic diseases ⚠
- p.Pro160Ala Single submitter Inborn genetic diseases ⚠
- p.Pro236Leu Single submitter Inborn genetic diseases ⚠
- p.Pro236Ser Single submitter Inborn genetic diseases ⚠
- p.Pro280Leu Single submitter Inborn genetic diseases ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro288Ser Single submitter Inborn genetic diseases ⚠
- p.Pro336Leu Single submitter
- p.Pro359Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Ser196Arg Single submitter ⚠
- p.Ser205Phe Single submitter ⚠
- p.Ser292Leu Single submitter Inborn genetic diseases ⚠
- p.Ser330Leu Single submitter ⚠
- p.Ser39Arg Single submitter ⚠
- p.Ser39Asn Single submitter Inborn genetic diseases ⚠
- p.Ser70Cys Single submitter Inborn genetic diseases ⚠
- p.Ser86Thr Single submitter Inborn genetic diseases ⚠
- p.Thr149= Single submitter isolated growth hormone deficiency type IB
- p.Thr19= Single submitter
- p.Thr234Ile Single submitter Inborn genetic diseases ⚠
- p.Thr75Asn Single submitter ⚠
- p.Trp101Ser Single submitter Inborn genetic diseases ⚠
- p.Trp65Gln Single submitter
- p.Tyr324Cys Single submitter Inborn genetic diseases ⚠
- p.Val13Met Single submitter Inborn genetic diseases ⚠
- p.Val142Ala Single submitter ⚠
- p.Val254Met Single submitter isolated growth hormone deficiency type IB ⚠
- p.Val261Leu Single submitter Inborn genetic diseases ⚠
- c.812+4A>C No assertion criteria disorder of sexual differentiation