MS4A2[gene] - ClinVar

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Items: 35

	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 3038446	NM_000139.5(MS4A2):c.-9A>G	MS4A2	Single nucleotide variant (5 prime UTR variant)	MS4A2-related disorder	GLikely benign
Select item 3042433	NM_000139.5(MS4A2):c.15T>C (p.Ser5=)	MS4A2	Single nucleotide variant (synonymous variant)	MS4A2-related disorder	GBenign
Select item 3044323	NM_000139.5(MS4A2):c.57-3_57-2del	MS4A2	Microsatellite (splice acceptor variant)	MS4A2-related disorder	GLikely benign
Select item 3210618	NM_000139.5(MS4A2):c.73G>T (p.Val25Phe)	MS4A2 (V25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556627	NM_000139.5(MS4A2):c.92A>C (p.Gln31Pro)	MS4A2 (Q31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365183	NM_000139.5(MS4A2):c.101C>T (p.Ser34Phe)	MS4A2 (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210588	NM_000139.5(MS4A2):c.122C>T (p.Ser41Leu)	MS4A2 (S41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043886	NM_000139.5(MS4A2):c.171G>A (p.Glu57=)	MS4A2	Single nucleotide variant (synonymous variant)	MS4A2-related disorder	GLikely benign
Select item 2531329	NM_000139.5(MS4A2):c.178T>C (p.Phe60Leu)	MS4A2 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210594	NM_000139.5(MS4A2):c.205G>A (p.Ala69Thr)	MS4A2 (A69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335286	NM_000139.5(MS4A2):c.283T>A (p.Ser95Thr)	MS4A2 (S95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210596	NM_000139.5(MS4A2):c.350T>C (p.Ile117Thr)	MS4A2 (I117T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333019	NM_000139.5(MS4A2):c.356A>G (p.Glu119Gly)	MS4A2 (E74G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210599	NM_000139.5(MS4A2):c.368C>T (p.Ala123Val)	MS4A2 (A123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480722	NM_000139.5(MS4A2):c.411C>A (p.Ser137Arg)	MS4A2 (S137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768452	NM_000139.5(MS4A2):c.428C>T (p.Thr143Met)	MS4A2 (T98M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2249650	NM_000139.5(MS4A2):c.473A>G (p.Tyr158Cys)	MS4A2 (Y113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359894	NM_000139.5(MS4A2):c.476T>A (p.Ile159Asn)	MS4A2 (I114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289801	NM_000139.5(MS4A2):c.552G>C (p.Met184Ile)	MS4A2 (M139I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790092	NM_000139.5(MS4A2):c.633C>A (p.Asn211Lys)	MS4A2 (N166K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2522448	NM_000139.5(MS4A2):c.646G>T (p.Asp216Tyr)	MS4A2 (D216Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14807	NM_000139.5(MS4A2):c.710A>G (p.Glu237Gly)	MS4A2 (E237G +1 more)	Single nucleotide variant (missense variant)	RECLASSIFIED - POLYMORPHISM	GBenign
Select item 2516368	NM_000139.5(MS4A2):c.725T>C (p.Ile242Thr)	MS4A2 (I242T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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: 35