ClinVar for Gene (Select 9486) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267206	NM_004854.5(CHST10):c.902A>T (p.His301Leu)	CHST10 (H301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267205	NM_004854.5(CHST10):c.733G>A (p.Gly245Ser)	CHST10 (G245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144702	NM_004854.5(CHST10):c.827T>C (p.Met276Thr)	CHST10 (M276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144701	NM_004854.5(CHST10):c.68A>C (p.Lys23Thr)	CHST10 (K23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144700	NM_004854.5(CHST10):c.661A>G (p.Ile221Val)	CHST10 (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144699	NM_004854.5(CHST10):c.622C>T (p.Arg208Trp)	CHST10 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144697	NM_004854.5(CHST10):c.251G>T (p.Arg84Leu)	CHST10 (R84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144696	NM_004854.5(CHST10):c.200G>A (p.Gly67Glu)	CHST10 (G67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144695	NM_004854.5(CHST10):c.143C>T (p.Pro48Leu)	CHST10 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2610340	NM_004854.5(CHST10):c.989G>A (p.Arg330Gln)	CHST10 (R330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475382	NM_004854.5(CHST10):c.134C>A (p.Thr45Lys)	CHST10 (T45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471055	NM_004854.5(CHST10):c.695C>T (p.Thr232Ile)	CHST10 (T232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384692	NM_004854.5(CHST10):c.298C>G (p.Leu100Val)	CHST10 (L100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365324	NM_004854.5(CHST10):c.106A>G (p.Ser36Gly)	CHST10 (S36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364826	NM_004854.5(CHST10):c.908T>C (p.Val303Ala)	CHST10 (V303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361817	NM_004854.5(CHST10):c.457G>A (p.Glu153Lys)	CHST10, LOC129934447 (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361591	NM_004854.5(CHST10):c.568G>C (p.Asp190His)	CHST10 (D190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359762	NM_004854.5(CHST10):c.724C>T (p.Arg242Cys)	CHST10 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359524	NM_004854.5(CHST10):c.998G>A (p.Arg333Gln)	CHST10 (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346999	NM_004854.5(CHST10):c.901C>T (p.His301Tyr)	CHST10 (H301Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269689	NM_004854.5(CHST10):c.293A>G (p.Lys98Arg)	CHST10 (K98R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254139	NM_004854.5(CHST10):c.310C>T (p.Pro104Ser)	CHST10 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232444	NM_004854.5(CHST10):c.662T>C (p.Ile221Thr)	CHST10 (I221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232300	NM_004854.5(CHST10):c.410T>G (p.Val137Gly)	CHST10 (V137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218056	NM_004854.5(CHST10):c.281A>G (p.Asp94Gly)	CHST10 (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215523	NM_004854.5(CHST10):c.557T>A (p.Phe186Tyr)	CHST10 (F186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1049488	NM_004854.5(CHST10):c.483G>C (p.Lys161Asn)	CHST10, LOC129934447 (K161N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562591	GRCh37/hg19 2q11.2(chr2:101022472-101536192)x3	NMS, NPAS2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394963	GRCh37/hg19 2q11.2(chr2:100890121-101188008)x3	CHST10, LONRF2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 155610	GRCh38/hg38 2q11.2(chr2:100406992-100919730)x3	CHST10, LINC01849 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150512	GRCh38/hg38 2q11.2(chr2:100404604-100908738)x3	CHST10, LINC01849 +8 more	Copy number gain	See cases	GLikely benign
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48