CD248 — 123 ClinVar variants
All ClinVar germline CD248 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
11 Benign · 10 Likely benign · 102 Uncertain significance
Full CD248 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 lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD248 p.Ala113Thr Uncertain significance Single submitter
- CD248 p.Ala200Thr Uncertain significance Single submitter
- CD248 p.Ala358Val Uncertain significance Single submitter
- CD248 p.Ala616Gly Uncertain significance Single submitter
- CD248 p.Ala656Thr Uncertain significance Single submitter
- CD248 p.Ala674Pro Uncertain significance Single submitter
- CD248 p.Ala76Pro Uncertain significance Single submitter
- CD248 p.Arg130Leu Uncertain significance Single submitter
- CD248 p.Arg263Gln Uncertain significance Single submitter
- CD248 p.Arg301Gln Uncertain significance Single submitter
- CD248 p.Arg449Gln Uncertain significance Single submitter
- CD248 p.Arg478His Uncertain significance Single submitter
- CD248 p.Arg4Cys Uncertain significance Single submitter
- CD248 p.Arg69His Uncertain significance Single submitter
- CD248 p.Arg712Cys Uncertain significance Single submitter
- CD248 p.Arg712His Uncertain significance Single submitter
- CD248 p.Arg721His Uncertain significance Single submitter
- CD248 p.Asn386Lys Uncertain significance Single submitter
- CD248 p.Asp169Val Uncertain significance Single submitter
- CD248 p.Cys94Tyr Uncertain significance Single submitter
- CD248 p.Gln568Glu Uncertain significance Single submitter
- CD248 p.Gln90Arg Uncertain significance Single submitter
- CD248 p.Glu53Asp Uncertain significance Single submitter
- CD248 p.Gly222Ala Uncertain significance Single submitter
- CD248 p.Gly357Asp Uncertain significance Single submitter
- CD248 p.Gly365Ala Uncertain significance Single submitter
- CD248 p.Gly387Ser Uncertain significance Single submitter
- CD248 p.His546Arg Uncertain significance Single submitter
- CD248 p.His716Gln Uncertain significance Single submitter
- CD248 p.Ile584Val Uncertain significance Single submitter
- CD248 p.Leu433His Uncertain significance Single submitter
- CD248 p.Leu702Val Uncertain significance Single submitter
- CD248 p.Lys654Arg Uncertain significance Single submitter
- CD248 p.Lys654Thr Uncertain significance Single submitter
- CD248 p.Phe158Leu Uncertain significance Single submitter
- CD248 p.Pro127Leu Uncertain significance Single submitter
- CD248 p.Pro653Ser Uncertain significance Single submitter
- CD248 p.Pro694Thr Uncertain significance Single submitter
- CD248 p.Pro740Arg Uncertain significance Single submitter
- CD248 p.Pro743Ser Uncertain significance Single submitter
- CD248 p.Ser454Pro Uncertain significance Single submitter
- CD248 p.Thr104Ala Uncertain significance Single submitter
- CD248 p.Thr106Ser Uncertain significance Single submitter
- CD248 p.Thr112Met Uncertain significance Single submitter
- CD248 p.Thr148Met Uncertain significance Single submitter
- CD248 p.Trp117Leu Uncertain significance Single submitter
- CD248 p.Val444Leu Uncertain significance Single submitter
- CD248 p.Val750Leu Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- CD248 p.Ala303Val Likely benign Multiple submitters
- CD248 p.Ala205Val Uncertain significance Single submitter
- CD248 p.Ala278Asp Uncertain significance Single submitter
- CD248 p.Ala495Gly Uncertain significance Single submitter
- CD248 p.Ala572Asp Uncertain significance Single submitter
- CD248 p.Arg141Cys Uncertain significance Single submitter
- CD248 p.Arg225Trp Uncertain significance Single submitter
- CD248 p.Arg40Trp Uncertain significance Single submitter
- CD248 p.Arg42Cys Uncertain significance Single submitter
- CD248 p.Arg449Trp Uncertain significance Single submitter
- CD248 p.Arg49Trp Uncertain significance Single submitter
- CD248 p.Arg537Trp Uncertain significance Single submitter
- CD248 p.Arg712Ser Uncertain significance Single submitter
- CD248 p.Arg81Trp Uncertain significance Single submitter
- CD248 p.Asp479His Uncertain significance Single submitter
- CD248 p.Asp683Ala Uncertain significance Single submitter
- CD248 p.Gln119His Uncertain significance Single submitter
- CD248 p.Gln277His Likely benign Single submitter
- CD248 p.Glu135Lys Uncertain significance Single submitter
- CD248 p.Glu272Lys Uncertain significance Single submitter
- CD248 p.Glu339Lys Uncertain significance Single submitter
- CD248 p.Glu376Ala Uncertain significance Single submitter
- CD248 p.Glu53Lys Uncertain significance Single submitter
- CD248 p.Glu673Lys Uncertain significance Single submitter
- CD248 p.Glu678Lys Uncertain significance Single submitter
- CD248 p.Gly240Arg Uncertain significance Single submitter
- CD248 p.Gly287Ser Uncertain significance Single submitter
- CD248 p.Gly372Arg Uncertain significance Single submitter
- CD248 p.Gly714Asp Uncertain significance Single submitter
- CD248 p.His308Pro Uncertain significance Single submitter
- CD248 p.His464Gln Uncertain significance Single submitter
- CD248 p.Leu264Val Uncertain significance Single submitter
- CD248 p.Leu492Val Uncertain significance Single submitter
- CD248 p.Lys720Asn Uncertain significance Single submitter
- CD248 p.Met532Lys Uncertain significance Single submitter
- CD248 p.Phe38Ile Uncertain significance Single submitter
- CD248 p.Pro165Arg Uncertain significance Single submitter
- CD248 p.Pro279Leu Uncertain significance Single submitter
- CD248 p.Pro286Ser Uncertain significance Single submitter
- CD248 p.Pro450Ser Uncertain significance Single submitter
- CD248 p.Pro570Leu Uncertain significance Single submitter
- CD248 p.Pro590Ser Uncertain significance Single submitter
- CD248 p.Pro614Thr Uncertain significance Single submitter
- CD248 p.Pro715Thr Uncertain significance Single submitter
- CD248 p.Pro740His Uncertain significance Single submitter
- CD248 p.Ser293Asn Uncertain significance Single submitter
- CD248 p.Ser33Asn Uncertain significance Single submitter
- CD248 p.Ser454Tyr Uncertain significance Single submitter
- CD248 p.Ser502Ala Uncertain significance Single submitter
- CD248 p.Thr104Met Uncertain significance Single submitter
- CD248 p.Thr181Met Uncertain significance Single submitter
- CD248 p.Thr390Met Uncertain significance Single submitter
- CD248 p.Thr711Ile Uncertain significance Single submitter
- CD248 p.Val254Met Uncertain significance Single submitter
- CD248 p.Val447Ile Uncertain significance Single submitter
- CD248 p.Val451Met Uncertain significance Single submitter
All CD248 variants
Benign 11
- p.Ala486Thr Multiple submitters
- p.Arg101= Multiple submitters
- p.Asp379= Multiple submitters
- p.Ile485= Multiple submitters
- p.Pro412= Multiple submitters
- p.Ser598= Multiple submitters
- p.Tyr410= Multiple submitters
- p.Val447= Multiple submitters
- p.Ala569= Single submitter
- p.Ala677= Single submitter
- p.Ile85= Single submitter
Likely benign 10
- p.Ala303Val Multiple submitters ⚠
- p.Ala174= Single submitter
- p.Ala27Ser Single submitter
- p.Ala539Thr Single submitter
- p.Ala569Thr Single submitter
- p.Arg537Gln Single submitter
- p.Gln277His Single submitter ⚠
- p.Gln681Arg Single submitter
- p.Ser32Gly Single submitter
- p.Thr587Pro Single submitter
Uncertain significance 102
- p.Ala113Thr Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala205Val Single submitter ⚠
- p.Ala278Asp Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala495Gly Single submitter ⚠
- p.Ala572Asp Single submitter ⚠
- p.Ala616Gly Single submitter ⚠
- p.Ala656Thr Single submitter ⚠
- p.Ala674Pro Single submitter ⚠
- p.Ala76Pro Single submitter ⚠
- p.Arg130Leu Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg225Trp Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg449Gln Single submitter ⚠
- p.Arg449Trp Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg49Trp Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg537Trp Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Arg712Cys Single submitter ⚠
- p.Arg712His Single submitter ⚠
- p.Arg712Ser Single submitter ⚠
- p.Arg721His Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Asn386Lys Single submitter ⚠
- p.Asp169Val Single submitter ⚠
- p.Asp479His Single submitter ⚠
- p.Asp683Ala Single submitter ⚠
- p.Cys94Tyr Single submitter ⚠
- p.Gln119His Single submitter ⚠
- p.Gln568Glu Single submitter ⚠
- p.Gln90Arg Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu376Ala Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Glu673Lys Single submitter ⚠
- p.Glu678Lys Single submitter ⚠
- p.Gly222Ala Single submitter ⚠
- p.Gly240Arg Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly357Asp Single submitter ⚠
- p.Gly365Ala Single submitter ⚠
- p.Gly372Arg Single submitter ⚠
- p.Gly387Ser Single submitter ⚠
- p.Gly714Asp Single submitter ⚠
- p.His308Pro Single submitter ⚠
- p.His464Gln Single submitter ⚠
- p.His546Arg Single submitter ⚠
- p.His716Gln Single submitter ⚠
- p.Ile584Val Single submitter ⚠
- p.Leu264Val Single submitter ⚠
- p.Leu433His Single submitter ⚠
- p.Leu492Val Single submitter ⚠
- p.Leu702Val Single submitter ⚠
- p.Lys654Arg Single submitter ⚠
- p.Lys654Thr Single submitter ⚠
- p.Lys720Asn Single submitter ⚠
- p.Met532Lys Single submitter ⚠
- p.Phe158Leu Single submitter ⚠
- p.Phe38Ile Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro165Arg Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro286Ser Single submitter ⚠
- p.Pro450Ser Single submitter ⚠
- p.Pro570Leu Single submitter ⚠
- p.Pro590Ser Single submitter ⚠
- p.Pro614Thr Single submitter ⚠
- p.Pro653Ser Single submitter ⚠
- p.Pro694Thr Single submitter ⚠
- p.Pro715Thr Single submitter ⚠
- p.Pro740Arg Single submitter ⚠
- p.Pro740His Single submitter ⚠
- p.Pro743Ser Single submitter ⚠
- p.Ser293Asn Single submitter ⚠
- p.Ser33Asn Single submitter ⚠
- p.Ser454Pro Single submitter ⚠
- p.Ser454Tyr Single submitter ⚠
- p.Ser502Ala Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr106Ser Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr148Met Single submitter ⚠
- p.Thr181Met Single submitter ⚠
- p.Thr390Met Single submitter ⚠
- p.Thr711Ile Single submitter ⚠
- p.Trp117Leu Single submitter ⚠
- p.Val254Met Single submitter ⚠
- p.Val444Leu Single submitter ⚠
- p.Val447Ile Single submitter ⚠
- p.Val451Met Single submitter ⚠
- p.Val750Leu Single submitter ⚠