ClinVar for Gene (Select 55454) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2620445	NM_018590.5(CSGALNACT2):c.1283G>A (p.Arg428Gln)	CSGALNACT2 (E337K +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2614964	NM_018590.5(CSGALNACT2):c.569T>A (p.Val190Asp)	CSGALNACT2 (V190D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611818	NM_018590.5(CSGALNACT2):c.811A>G (p.Ile271Val)	CSGALNACT2 (I271V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2590424	NM_018590.5(CSGALNACT2):c.281G>A (p.Arg94Gln)	CSGALNACT2 (R94Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2551644	NM_018590.5(CSGALNACT2):c.580C>T (p.Pro194Ser)	CSGALNACT2 (P194S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548756	NM_018590.5(CSGALNACT2):c.1423C>T (p.Arg475Trp)	CSGALNACT2 (R475W)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2493298	NM_018590.5(CSGALNACT2):c.1455G>T (p.Trp485Cys)	CSGALNACT2 (W485C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456136	NM_018590.5(CSGALNACT2):c.1499G>A (p.Arg500His)	CSGALNACT2 (R500H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382180	NM_018590.5(CSGALNACT2):c.1142G>A (p.Arg381Gln)	CSGALNACT2 (R381Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2371682	NM_018590.5(CSGALNACT2):c.607G>C (p.Glu203Gln)	CSGALNACT2 (E203Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369477	NM_018590.5(CSGALNACT2):c.1199A>G (p.Asn400Ser)	CSGALNACT2 (N400S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362747	NM_018590.5(CSGALNACT2):c.494G>A (p.Arg165His)	CSGALNACT2 (R165H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347980	NM_018590.5(CSGALNACT2):c.32G>A (p.Arg11Gln)	CSGALNACT2 (R11Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337492	NM_018590.5(CSGALNACT2):c.1403A>G (p.His468Arg)	CSGALNACT2 (H468R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2337121	NM_018590.5(CSGALNACT2):c.683A>C (p.Asp228Ala)	CSGALNACT2 (D228A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336673	NM_018590.5(CSGALNACT2):c.25C>G (p.His9Asp)	CSGALNACT2 (H9D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329855	NM_018590.5(CSGALNACT2):c.611A>C (p.Glu204Ala)	CSGALNACT2 (E204A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321522	NM_018590.5(CSGALNACT2):c.418C>T (p.Pro140Ser)	CSGALNACT2 (P140S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314956	NM_018590.5(CSGALNACT2):c.703C>G (p.Leu235Val)	CSGALNACT2 (L235V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302233	NM_018590.5(CSGALNACT2):c.988A>G (p.Asn330Asp)	CSGALNACT2 (N330D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262022	NM_018590.5(CSGALNACT2):c.794T>C (p.Ile265Thr)	CSGALNACT2 (I265T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258069	NM_018590.5(CSGALNACT2):c.753C>G (p.Phe251Leu)	CSGALNACT2 (F251L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235958	NM_018590.5(CSGALNACT2):c.557C>T (p.Ala186Val)	CSGALNACT2 (A186V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221099	NM_018590.5(CSGALNACT2):c.551T>C (p.Ile184Thr)	CSGALNACT2 (I184T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 150132	GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3	CSGALNACT2, CSGALNACT2-DT +20 more	Copy number gain	See cases	GUncertain significance
Select item 148036	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3	BMS1, CSGALNACT2 +41 more	Copy number gain	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	A1CF, AGAP10 +306 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43