STH[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 153206	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 154006	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148153	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1	LOC121852934, CRHR1 +10 more	Copy number loss	See cases	GPathogenic
Select item 144496	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57290	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 150548	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57526	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 155320	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 161014	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148938	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148520	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3	CRHR1, KANSL1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 145067	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57538	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57528	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57279	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 32010	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57539	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 2397123	NM_001007532.3(STH):c.5G>T (p.Ser2Ile)	MAPT, STH (S2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171189	NM_001007532.3(STH):c.63G>T (p.Trp21Cys)	MAPT, STH (W21C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218021	NM_001007532.3(STH):c.65C>T (p.Pro22Leu)	MAPT, STH (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217588	NM_001007532.3(STH):c.74T>C (p.Ile25Thr)	MAPT, STH (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387091	NM_001007532.3(STH):c.194T>C (p.Val65Ala)	MAPT, STH (V65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597510	NM_001007532.3(STH):c.256A>G (p.Asn86Asp)	MAPT, STH (N86D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2259157	NM_001007532.3(STH):c.335C>A (p.Ala112Asp)	MAPT, STH (A112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171188	NM_001007532.3(STH):c.355G>C (p.Gly119Arg)	MAPT, STH (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371666	NM_001007532.3(STH):c.368C>T (p.Ala123Val)	MAPT, STH (A123V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063483	GRCh37/hg19 17q21.31(chr17:43459741-44292742)x1	ARHGAP27, SPPL2C +5 more	Copy number loss	not specified	GPathogenic
Select item 3024608	GRCh37/hg19 17q21.31(chr17:43738327-44172067)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 2425442	NC_000017.10:g.(?_44039704)_(44101537_?)dup	MAPT, STH	Duplication	Frontotemporal dementia	GUncertain significance
Select item 1809344	GRCh37/hg19 17q21.31(chr17:43693538-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1808674	GRCh37/hg19 17q21.31(chr17:43622197-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1710919	GRCh37/hg19 17q21.31(chr17:43703801-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 1703537	GRCh37/hg19 17q21.31(chr17:43703801-44212416)	CRHR1, KANSL1 +3 more	Copy number loss	Koolen-de Vries syndrome	GPathogenic
Select item 1411431	NC_000017.10:g.(?_43861911)_(44159928_?)del	CRHR1, KANSL1 +3 more	Deletion	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1410324	NC_000017.10:g.(?_43861911)_(44145053_?)dup	CRHR1, KANSL1 +3 more	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 1010652	NC_000017.10:g.(?_44073755)_(44159918_?)dup	KANSL1, MAPT +1 more	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 980719	GRCh37/hg19 17q21.31(chr17:43586396-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 815938	GRCh37/hg19 17q21.31(chr17:43655356-44784639)x3	ARL17A, ARL17B +8 more	Copy number gain	not provided	GPathogenic
Select item 800540	Single allele	CRHR1, KANSL1 +4 more	Deletion	Intellectual disability	GPathogenic
Select item 666442	GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1	STH, CRHR1 +3 more	Copy number loss	Koolen-de Vries syndrome	GPathogenic
Select item 564449	GRCh37/hg19 17q21.31(chr17:43703800-44212416)x1	KANSL1, STH +3 more	Copy number loss	not provided	GPathogenic
Select item 564448	GRCh37/hg19 17q21.31(chr17:43688308-44163085)x1	MAPT, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 443423	GRCh37/hg19 17q21.31(chr17:43703801-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 443088	GRCh37/hg19 17q21.31(chr17:43710150-44292742)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GLikely pathogenic
Select item 442929	GRCh37/hg19 17q21.31(chr17:43655356-44292742)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GLikely pathogenic
Select item 442854	GRCh37/hg19 17q21.31(chr17:43703800-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 442059	GRCh37/hg19 17q21.31(chr17:43710370-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395154	GRCh37/hg19 17q21.31(chr17:43708346-44158662)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GPathogenic
Select item 394430	GRCh37/hg19 17q21.31(chr17:43585760-44248995)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 253584	GRCh37/hg19 17q21.31(chr17:43592410-44249054)x1	CRHR1, SPPL2C +3 more	Copy number loss	See cases	GPathogenic

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Items: 67