ClinVar for Gene (Select 9760) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2732267	NM_014729.3(TOX):c.678C>T (p.Gly226=)	TOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475490	NM_014729.3(TOX):c.125T>C (p.Met42Thr)	TOX (M42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462015	NM_014729.3(TOX):c.152A>G (p.Tyr51Cys)	TOX (Y51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458017	NM_014729.3(TOX):c.1199C>T (p.Pro400Leu)	TOX (P400L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397000	NM_014729.3(TOX):c.1142T>C (p.Met381Thr)	TOX (M381T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391402	NM_014729.3(TOX):c.1284C>A (p.His428Gln)	TOX (H428Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377182	NM_014729.3(TOX):c.1207C>A (p.Gln403Lys)	TOX (Q403K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343691	NM_014729.3(TOX):c.1100C>T (p.Ser367Leu)	TOX (S367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308041	NM_014729.3(TOX):c.1289A>T (p.His430Leu)	TOX (H430L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282007	NM_014729.3(TOX):c.5A>C (p.Asp2Ala)	TOX (D2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272224	NM_014729.3(TOX):c.522G>A (p.Met174Ile)	TOX (M174I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271806	NM_014729.3(TOX):c.1027G>A (p.Val343Met)	TOX (V343M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269949	NM_014729.3(TOX):c.1505C>A (p.Pro502Gln)	LOC121331303, TOX (P502Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246961	NM_014729.3(TOX):c.1553A>G (p.Gln518Arg)	TOX (Q518R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527433	GRCh37/hg19 8q12.1(chr8:58247706-60355217)	CYP7A1, FAM110B +5 more	Copy number loss	not specified	GUncertain significance
Select item 977789	GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)	TOX, CLVS1 +5 more	Copy number gain	duplication 8q12	GLikely pathogenic
Select item 774882	NM_014729.3(TOX):c.412-44TATT[8]	TOX	Microsatellite (intron variant)	not provided	GBenign
Select item 688792	GRCh37/hg19 8q12.1(chr8:59736226-60214258)x1	TOX	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ATP6V1H, NPBWR1 +36 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +226 more	Copy number loss	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	LOC116186930, LOC116186931 +175 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44