MS4A13[gene] - ClinVar - NCBI

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Items: 19

	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 2623928	NM_001012417.3(MS4A13):c.71C>G (p.Ala24Gly)	MS4A13 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210399	NM_001012417.3(MS4A13):c.179G>A (p.Arg60Gln)	MS4A13 (R60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2620553	NM_001012417.3(MS4A13):c.322G>A (p.Val108Ile)	MS4A13 (V68I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554257	NM_001012417.3(MS4A13):c.329G>T (p.Arg110Leu)	MS4A13 (R51L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210411	NM_001012417.3(MS4A13):c.347A>G (p.Tyr116Cys)	MS4A13 (Y116C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531579	NM_001012417.3(MS4A13):c.378C>G (p.His126Gln)	MS4A13 (H67Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531816	NM_001012417.3(MS4A13):c.414A>C (p.Gln138His)	MS4A13 (Q138H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369493	NM_001012417.3(MS4A13):c.425C>T (p.Thr142Ile)	MS4A13 (T142I +2 more)	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 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