ClinVar for Gene (Select 54860) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296173	NM_017716.3(MS4A12):c.268G>T (p.Ala90Ser)	MS4A12 (A90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296172	NM_017716.3(MS4A12):c.252T>G (p.Phe84Leu)	MS4A12 (F84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296171	NM_017716.3(MS4A12):c.764C>T (p.Pro255Leu)	MS4A12 (P209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210397	NM_017716.3(MS4A12):c.7T>C (p.Ser3Pro)	MS4A12 (S3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210396	NM_017716.3(MS4A12):c.794C>A (p.Ala265Asp)	MS4A12 (A219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210393	NM_017716.3(MS4A12):c.6G>T (p.Met2Ile)	MS4A12 (M2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210384	NM_017716.3(MS4A12):c.499G>A (p.Val167Ile)	MS4A12 (V167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210382	NM_017716.3(MS4A12):c.479G>A (p.Gly160Asp)	MS4A12 (G160D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210376	NM_017716.3(MS4A12):c.365T>A (p.Phe122Tyr)	MS4A12 (F122Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210375	NM_017716.3(MS4A12):c.350G>A (p.Arg117Lys)	MS4A12 (R117K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210372	NM_017716.3(MS4A12):c.241G>A (p.Val81Ile)	MS4A12 (V81I)	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	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2596281	NM_017716.3(MS4A12):c.209T>C (p.Ile70Thr)	MS4A12 (I70T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2561403	NM_017716.3(MS4A12):c.614C>T (p.Thr205Met)	MS4A12 (T159M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465300	NM_017716.3(MS4A12):c.743C>T (p.Thr248Ile)	MS4A12 (T202I +1 more)	Single nucleotide variant (missense variant)	not specified	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 2389637	NM_017716.3(MS4A12):c.541G>A (p.Val181Met)	MS4A12 (V135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375453	NM_017716.3(MS4A12):c.314T>C (p.Phe105Ser)	MS4A12 (F105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358500	NM_017716.3(MS4A12):c.143G>A (p.Arg48His)	MS4A12 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321938	NM_017716.3(MS4A12):c.731G>C (p.Ser244Thr)	MS4A12 (S198T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320590	NM_017716.3(MS4A12):c.164C>T (p.Thr55Ile)	MS4A12 (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276092	NM_017716.3(MS4A12):c.464G>A (p.Arg155His)	MS4A12 (R109H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220922	NM_017716.3(MS4A12):c.680C>T (p.Ala227Val)	MS4A12 (A227V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214792	NM_017716.3(MS4A12):c.61C>A (p.Pro21Thr)	MS4A12 (P21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205693	NM_017716.3(MS4A12):c.142C>T (p.Arg48Cys)	MS4A12 (R48C)	Single nucleotide variant (missense variant)	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 932505	NM_017716.3(MS4A12):c.165A>G (p.Thr55=)	MS4A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776616	NM_017716.3(MS4A12):c.472-1G>T	MS4A12	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
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 155601	GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1	LINC00301, LINC02705 +41 more	Copy number loss	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36