MS4A5[gene] - ClinVar

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Items: 24

	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 3210722	NM_023945.3(MS4A5):c.19C>T (p.His7Tyr)	MS4A5 (H7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210758	NM_023945.3(MS4A5):c.64G>A (p.Glu22Lys)	MS4A5 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494868	NM_023945.3(MS4A5):c.167T>C (p.Leu56Pro)	MS4A5 (L56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210726	NM_023945.3(MS4A5):c.235T>C (p.Phe79Leu)	MS4A5 (F79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210731	NM_023945.3(MS4A5):c.265T>C (p.Phe89Leu)	MS4A5 (F89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210732	NM_023945.3(MS4A5):c.298G>A (p.Ala100Thr)	MS4A5 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210736	NM_023945.3(MS4A5):c.311C>G (p.Ala104Gly)	MS4A5 (A104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210740	NM_023945.3(MS4A5):c.328A>G (p.Thr110Ala)	MS4A5 (T110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210745	NM_023945.3(MS4A5):c.353G>A (p.Arg118Gln)	MS4A5 (R118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259400	NM_023945.3(MS4A5):c.424G>A (p.Asp142Asn)	MS4A5 (D142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287059	NM_023945.3(MS4A5):c.580T>C (p.Cys194Arg)	MS4A5 (C194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455593	NM_023945.3(MS4A5):c.584A>G (p.Asp195Gly)	MS4A5 (D195G)	Single nucleotide variant (missense variant)	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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +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	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 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

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Items: 24