ClinVar for Gene (Select 932) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296189	NM_006138.5(MS4A3):c.613G>A (p.Glu205Lys)	MS4A3 (E159K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296188	NM_006138.5(MS4A3):c.223C>G (p.Pro75Ala)	MS4A3 (P75A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296187	NM_006138.5(MS4A3):c.487T>A (p.Cys163Ser)	MS4A3 (C117S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296186	NM_006138.5(MS4A3):c.295T>C (p.Phe99Leu)	MS4A3 (F99L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210663	NM_006138.5(MS4A3):c.575T>C (p.Ile192Thr)	MS4A3 (I146T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210662	NM_006138.5(MS4A3):c.559G>A (p.Val187Ile)	MS4A3 (V64I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210639	NM_006138.5(MS4A3):c.230A>G (p.His77Arg)	MS4A3 (H77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2569850	NM_006138.5(MS4A3):c.440T>G (p.Ile147Ser)	MS4A3 (I101S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549363	NM_006138.5(MS4A3):c.61G>C (p.Gly21Arg)	MS4A3 (G21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543166	NM_006138.5(MS4A3):c.590A>G (p.Asn197Ser)	MS4A3 (N197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540783	NM_006138.5(MS4A3):c.178G>A (p.Ala60Thr)	MS4A3 (A60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530512	NM_006138.5(MS4A3):c.441C>G (p.Ile147Met)	MS4A3 (I24M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520456	NM_006138.5(MS4A3):c.311C>A (p.Thr104Asn)	MS4A3 (T58N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515107	NM_006138.5(MS4A3):c.182T>A (p.Met61Lys)	MS4A3 (M61K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469986	NM_006138.5(MS4A3):c.257C>T (p.Thr86Ile)	MS4A3 (T86I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2405137	NM_006138.5(MS4A3):c.638C>T (p.Ser213Phe)	MS4A3 (S167F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389124	NM_006138.5(MS4A3):c.148G>C (p.Val50Leu)	MS4A3 (V50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351537	NM_006138.5(MS4A3):c.521T>C (p.Val174Ala)	MS4A3 (V128A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285747	NM_006138.5(MS4A3):c.178G>C (p.Ala60Pro)	MS4A3 (A60P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274039	NM_006138.5(MS4A3):c.30G>T (p.Glu10Asp)	MS4A3 (E10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 563806	GRCh37/hg19 11q12.1(chr11:59822741-59875556)x1	MS4A2, MS4A3	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395398	GRCh37/hg19 11q12.1-12.2(chr11:59679631-60167878)x3	MS4A14, MS4A2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 32