ClinVar for MedGen (Select 1375401) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254940	NM_003403.5(YY1):c.980G>A (p.Cys327Tyr)	YY1 (C327Y)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 3236170	NM_003403.5(YY1):c.1147_1151dup (p.Cys385fs)	YY1 (C385fs)	Duplication (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 3068234	NM_003403.5(YY1):c.818C>A (p.Pro273His)	YY1 (P273H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2690488	NM_003403.5(YY1):c.487G>A (p.Gly163Ser)	YY1 (G163S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely benign
Select item 2664162	NM_003403.5(YY1):c.1025G>A (p.Arg342Gln)	YY1 (R342Q)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GConflicting classifications of pathogenicity
Select item 2627588	NM_003403.5(YY1):c.1192A>G (p.Thr398Ala)	YY1 (T398A)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2582783	NM_003403.5(YY1):c.1102T>C (p.Phe368Leu)	YY1 (F368L)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2444518	NM_003403.5(YY1):c.458_476del (p.Val153fs)	YY1 (V153fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	YY1 (R371H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2438636	NM_003403.5(YY1):c.194A>G (p.His65Arg)	YY1 (H65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2438635	NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)	YY1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438634	NM_003403.5(YY1):c.188G>A (p.Gly63Asp)	YY1 (G63D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2438633	NM_003403.5(YY1):c.166G>A (p.Gly56Ser)	YY1 (G56S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2413123	NM_003403.5(YY1):c.1057T>C (p.Phe353Leu)	YY1 (F353L)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1711084	NM_003403.5(YY1):c.430G>A (p.Asp144Asn)	YY1 (D144N)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1710183	NM_003403.5(YY1):c.1062G>A (p.Gln354=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1708247	NM_003403.5(YY1):c.1036G>T (p.Val346Phe)	YY1 (V346F)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1679536	NM_003403.5(YY1):c.1062+1G>A	YY1	Single nucleotide variant (splice donor variant)	Gabriele de Vries syndrome	GPathogenic
Select item 1679404	NM_003403.5(YY1):c.1121T>G (p.Val374Gly)	YY1 (V374G)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1341784	NM_003403.5(YY1):c.608A>G (p.Lys203Arg)	YY1 (K203R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1333898	NM_003403.5(YY1):c.514G>T (p.Val172Phe)	LOC130056453, YY1 (V172F)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1321254	NM_003403.5(YY1):c.1106A>G (p.Asn369Ser)	YY1 (N369S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1162319	NM_003403.5(YY1):c.690del (p.Asp231fs)	YY1 (D231fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 1032129	NM_003403.5(YY1):c.1032A>G (p.Gln344=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1029703	NM_003403.5(YY1):c.527G>A (p.Gly176Asp)	LOC130056453, YY1 (G176D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1029702	NM_003403.5(YY1):c.-5C>T	LOC130056452, YY1	Single nucleotide variant (5 prime UTR variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1029701	NM_003403.5(YY1):c.562G>A (p.Gly188Ser)	YY1 (G188S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 996852	NM_003403.5(YY1):c.202G>A (p.Ala68Thr)	YY1 (A68T)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 976756	NM_003403.5(YY1):c.1118A>G (p.His373Arg)	YY1 (H373R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 931670	NM_003403.5(YY1):c.207CCA[7] (p.His80dup)	YY1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813332	GRCh37/hg19 14q32.2(chr14:100317190-101012999)	BEGAIN, DEGS2 +7 more	Copy number loss	Gabriele de Vries syndrome	GPathogenic
Select item 430621	NM_003403.5(YY1):c.535A>T (p.Lys179Ter)	LOC130056453, YY1 (K179*)	Single nucleotide variant (nonsense)	Gabriele de Vries syndrome	GPathogenic
Select item 430620	NM_003403.5(YY1):c.1030C>T (p.Gln344Ter)	YY1 (Q344*)	Single nucleotide variant (nonsense)	Gabriele de Vries syndrome	GPathogenic
Select item 430619	NM_003403.5(YY1):c.1096C>G (p.Leu366Val)	YY1 (L366V)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 430618	NM_003403.5(YY1):c.1097T>C (p.Leu366Pro)	YY1 (L366P)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 430617	NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr)	YY1 (D380Y)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 36