MS4A4A[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign
Select item 3210678	NM_148975.3(MS4A4A):c.118C>A (p.Leu40Met)	MS4A4A (L21M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405859	NM_148975.3(MS4A4A):c.187C>A (p.Pro63Thr)	MS4A4A (P63T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254564	NM_148975.3(MS4A4A):c.212T>C (p.Ile71Thr)	MS4A4A (I52T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234960	NM_148975.3(MS4A4A):c.268A>G (p.Asn90Asp)	MS4A4A (N71D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391491	NM_148975.3(MS4A4A):c.295G>A (p.Val99Met)	MS4A4A (V80M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241638	NM_148975.3(MS4A4A):c.304G>A (p.Gly102Arg)	MS4A4A (G83R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338479	NM_148975.3(MS4A4A):c.356T>C (p.Ile119Thr)	MS4A4A (I119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380181	NM_148975.3(MS4A4A):c.377C>T (p.Thr126Ile)	MS4A4A (T107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296190	NM_148975.3(MS4A4A):c.383G>C (p.Gly128Ala)	MS4A4A (G109A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367092	NM_148975.3(MS4A4A):c.428T>C (p.Leu143Pro)	MS4A4A (L124P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226492	NM_148975.3(MS4A4A):c.503A>G (p.Tyr168Cys)	MS4A4A (Y168C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1223746	NM_148975.3(MS4A4A):c.532A>G (p.Met178Val)	MS4A4A (M159V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3210708	NM_148975.3(MS4A4A):c.550C>A (p.Leu184Met)	MS4A4A (L131M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210711	NM_148975.3(MS4A4A):c.551T>C (p.Leu184Pro)	MS4A4A (L131P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353476	NM_148975.3(MS4A4A):c.635G>A (p.Cys212Tyr)	MS4A4A (C212Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461537	NM_148975.3(MS4A4A):c.641C>A (p.Pro214His)	MS4A4A (P195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578657	NC_000011.10:g.60317935A>G	MS4A4A	Single nucleotide variant	not provided	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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2427421	NC_000011.9:g.(?_59939307)_(60235941_?)dup	MS4A1, MS4A14 +6 more	Duplication	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 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

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Items: 30