"GeneDx"[submitter] AND "STS"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	AKAP17A, ARSD +87 more	Copy number loss	See cases	GPathogenic
Select item 59205	GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0	ANOS1, ARSD +81 more	Copy number loss	See cases	GPathogenic
Select item 151524	GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x3	LOC106029240, LOC113875037 +26 more	Copy number gain	See cases	GLikely benign
Select item 151522	GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x2	LOC106029240, LOC113875037 +26 more	Copy number gain	See cases	GBenign
Select item 151713	GRCh38/hg38 Xp22.31(chrX:6532387-8147053)x3	LOC106029240, LOC113875037 +26 more	Copy number gain	See cases	GLikely benign
Select item 59822	GRCh38/hg38 Xp22.31(chrX:6534166-8148026)x3	LOC106029240, LOC113875037 +26 more	Copy number gain	See cases	GBenign
Select item 59820	GRCh38/hg38 Xp22.31(chrX:6534166-8168680)x2	LOC106029240, LOC106029241 +27 more	Copy number gain	See cases	GBenign
Select item 151789	GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x1	LOC113875037, LOC121627957 +24 more	Copy number loss	See cases	GPathogenic
Select item 151788	GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x2	LOC113875037, LOC121627957 +24 more	Copy number gain	See cases	GBenign
Select item 59217	GRCh38/hg38 Xp22.31(chrX:6536991-8163769)x1	LOC113875037, LOC121627957 +24 more	Copy number loss	See cases	GPathogenic
Select item 59827	GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x1	LOC113875037, LOC121627957 +24 more	Copy number loss	See cases	GPathogenic
Select item 59826	GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x3	LOC113875037, LOC121627957 +24 more	Copy number gain	See cases	GBenign
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 151816	GRCh38/hg38 Xp22.31(chrX:6962488-7428484)x2	LOC113875037, LOC126863197 +13 more	Copy number gain	See cases	GBenign
Select item 1265441	NM_001320752.2(STS):c.-5+28189C>T	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265834	NM_001320752.2(STS):c.-4-312C>G	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315048	NM_001320752.2(STS):c.65C>T (p.Pro22Leu)	STS (P22L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211715	NM_001320752.2(STS):c.97G>A (p.Gly33Ser)	STS (G33S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 453154	NM_001320752.2(STS):c.169G>T (p.Gly57Ter)	STS (G69* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1810494	NM_001320752.2(STS):c.170G>A (p.Gly57Glu)	STS (G69E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214120	NM_001320752.2(STS):c.382+214TG[8]	STS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1278067	NM_001320752.2(STS):c.382+241TG[6]	STS	Microsatellite (intron variant)	not provided	GBenign
Select item 3365446	NM_001320752.2(STS):c.383G>A (p.Gly128Glu)	STS (G128E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342330	NM_001320752.2(STS):c.513T>G (p.Ser171Arg)	STS (S171R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262357	NM_001320752.2(STS):c.806+165G>A	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231777	NM_001320752.2(STS):c.806+214C>T	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286096	NM_001320752.2(STS):c.806+244T>C	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691776	NM_000351.7(STS):c.807-6_807-5dup	STS	Duplication	not provided	GLikely benign
Select item 1183720	NM_001320752.2(STS):c.807-5dup	STS	Duplication (intron variant)	not provided	GBenign
Select item 1282545	NM_001320752.2(STS):c.904G>A (p.Val302Ile)	STS (V302I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3372224	NM_001320752.2(STS):c.910G>A (p.Gly304Arg)	STS (G304R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10554	NM_001320752.2(STS):c.1007C>T (p.Ser336Leu)	STS (S336L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1218348	NM_001320752.2(STS):c.1082-259G>A	STS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234216	NM_001320752.2(STS):c.1082-246G>C	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200402	NM_001320752.2(STS):c.1082-127C>A	STS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236792	NM_001320752.2(STS):c.1082-76G>A	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193898	NM_001320752.2(STS):c.1082-55C>T	STS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450562	NM_001320752.2(STS):c.1109G>C (p.Gly370Ala)	STS (G382A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421936	NM_001320752.2(STS):c.1114C>T (p.Arg372Trp)	STS (R372W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1274159	NM_001320752.2(STS):c.1157G>C (p.Gly386Ala)	STS (G386A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1214357	NM_001320752.2(STS):c.1212G>C (p.Lys404Asn)	STS (K404N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1267697	NM_001320752.2(STS):c.1241+15G>C	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693412	NM_001320752.2(STS):c.1363+37G>A	STS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267325	NM_001320752.2(STS):c.1363+286G>A	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266591	NM_001320752.2(STS):c.1363+289G>A	STS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772035	NM_001320752.2(STS):c.1549C>T (p.Arg517Trp)	STS (R517W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 253737	GRCh37/hg19 Xp22.31(chrX:7153846-7469635)x2	STS	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253552	GRCh37/hg19 Xp22.31(chrX:6456036-8139238)x0	VCX2, PUDP +3 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253498	GRCh37/hg19 Xp22.31(chrX:6639808-7896607)x0	STS, PNPLA4 +2 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 66