ClinVar for MedGen (Select 1375401) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely pathogenic
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)	not provided +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)	Gabriele de Vries syndrome +1 more	GConflicting classifications of pathogenicity
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)	Gabriele de Vries syndrome +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

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Items: 35