SHE[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3161664	NM_001010846.3(SHE):c.1478A>G (p.Lys493Arg)	SHE (K493R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611336	NM_001010846.3(SHE):c.1324A>G (p.Ile442Val)	SHE (I442V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161662	NM_001010846.3(SHE):c.1247G>C (p.Gly416Ala)	SHE (G416A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161661	NM_001010846.3(SHE):c.1241A>G (p.Glu414Gly)	SHE (E414G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520135	NM_001010846.3(SHE):c.1232C>T (p.Pro411Leu)	SHE (P411L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301950	NM_001010846.3(SHE):c.1141G>A (p.Gly381Arg)	SHE (G381R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161660	NM_001010846.3(SHE):c.1096T>G (p.Trp366Gly)	SHE (W366G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348762	NM_001010846.3(SHE):c.1046G>A (p.Arg349Gln)	SHE (R349Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404117	NM_001010846.3(SHE):c.1013G>A (p.Arg338Gln)	SHE (R338Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161672	NM_001010846.3(SHE):c.965C>G (p.Ala322Gly)	SHE (A322G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161671	NM_001010846.3(SHE):c.938G>A (p.Arg313Gln)	SHE (R313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350422	NM_001010846.3(SHE):c.886C>T (p.Pro296Ser)	SHE (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513187	NM_001010846.3(SHE):c.881A>G (p.Tyr294Cys)	SHE (Y294C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161670	NM_001010846.3(SHE):c.874A>G (p.Thr292Ala)	SHE (T292A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161669	NM_001010846.3(SHE):c.856C>G (p.Pro286Ala)	SHE (P286A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332020	NM_001010846.3(SHE):c.830G>A (p.Arg277Gln)	SHE (R277Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620181	NM_001010846.3(SHE):c.800G>T (p.Gly267Val)	SHE (G267V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161667	NM_001010846.3(SHE):c.635G>A (p.Arg212Gln)	SHE (R212Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326108	NM_001010846.3(SHE):c.514T>C (p.Ser172Pro)	SHE (S172P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468942	NM_001010846.3(SHE):c.487A>G (p.Ser163Gly)	SHE (S163G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3318275	NM_001010846.3(SHE):c.362A>G (p.Lys121Arg)	SHE (K121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296545	NM_001010846.3(SHE):c.349G>A (p.Gly117Ser)	SHE (G117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262579	NM_001010846.3(SHE):c.310T>G (p.Ser104Ala)	SHE (S104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229354	NM_001010846.3(SHE):c.310T>C (p.Ser104Pro)	SHE (S104P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411690	NM_001010846.3(SHE):c.283G>T (p.Gly95Cys)	SHE (G95C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620332	NM_001010846.3(SHE):c.254C>G (p.Ser85Trp)	SHE (S85W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161666	NM_001010846.3(SHE):c.181G>A (p.Gly61Ser)	SHE (G61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408770	NM_001010846.3(SHE):c.163C>T (p.Arg55Trp)	SHE (R55W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161663	NM_001010846.3(SHE):c.133T>A (p.Phe45Ile)	SHE (F45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161668	NM_001010846.3(SHE):c.73C>T (p.Pro25Ser)	SHE (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469167	NM_001010846.3(SHE):c.65C>T (p.Ser22Phe)	SHE (S22F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205770	NM_001010846.3(SHE):c.58G>A (p.Ala20Thr)	SHE (A20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318274	NM_001010846.3(SHE):c.28T>A (p.Ser10Thr)	SHE (S10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392533	NM_001010846.3(SHE):c.25G>C (p.Ala9Pro)	SHE (A9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161665	NM_001010846.3(SHE):c.16A>T (p.Thr6Ser)	SHE (T6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 1459168	NC_000001.10:g.(?_154422067)_(154580482_?)del	ADAR, CHRNB2 +4 more	Deletion	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 52