ClinVar for Gene (Select 54860) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2596281	NM_017716.3(MS4A12):c.209T>C (p.Ile70Thr)	MS4A12 (I70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2561403	NM_017716.3(MS4A12):c.614C>T (p.Thr205Met)	MS4A12 (T159M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465300	NM_017716.3(MS4A12):c.743C>T (p.Thr248Ile)	MS4A12 (T202I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2375453	NM_017716.3(MS4A12):c.314T>C (p.Phe105Ser)	MS4A12 (F105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358500	NM_017716.3(MS4A12):c.143G>A (p.Arg48His)	MS4A12 (R48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321938	NM_017716.3(MS4A12):c.731G>C (p.Ser244Thr)	MS4A12 (S198T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320590	NM_017716.3(MS4A12):c.164C>T (p.Thr55Ile)	MS4A12 (T55I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276092	NM_017716.3(MS4A12):c.464G>A (p.Arg155His)	MS4A12 (R109H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220922	NM_017716.3(MS4A12):c.680C>T (p.Ala227Val)	MS4A12 (A227V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214792	NM_017716.3(MS4A12):c.61C>A (p.Pro21Thr)	MS4A12 (P21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205693	NM_017716.3(MS4A12):c.142C>T (p.Arg48Cys)	MS4A12 (R48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	APOA1, APOA4 +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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +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

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Links from Gene

Items: 25