ClinVar for Gene (Select 85329) - ClinVar

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Links from Gene

Items: 29

	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 2619601	NM_033101.4(LGALS12):c.529C>T (p.His177Tyr)	LGALS12 (H177Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614474	NM_033101.4(LGALS12):c.562G>A (p.Val188Met)	LGALS12 (V188M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593319	NM_033101.4(LGALS12):c.407G>A (p.Arg136His)	LGALS12 (R136H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554442	NM_033101.4(LGALS12):c.683C>T (p.Ala228Val)	LGALS12 (A228V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2553935	NM_033101.4(LGALS12):c.842A>G (p.Asn281Ser)	LGALS12 (N282S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541539	NM_033101.4(LGALS12):c.-30A>G	LGALS12	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2539861	NM_033101.4(LGALS12):c.355G>A (p.Gly119Arg)	LGALS12 (G119R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494862	NM_033101.4(LGALS12):c.292G>A (p.Glu98Lys)	LGALS12 (E59K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494396	NM_033101.4(LGALS12):c.763G>A (p.Ala255Thr)	LGALS12 (A216T +4 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 2411673	NM_033101.4(LGALS12):c.893T>C (p.Leu298Pro)	LGALS12 (L259P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366547	NM_033101.4(LGALS12):c.682G>A (p.Ala228Thr)	LGALS12 (A180T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364700	NM_033101.4(LGALS12):c.247C>T (p.Pro83Ser)	LGALS12 (P84S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310347	NM_033101.4(LGALS12):c.-51G>T	LGALS12	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2291887	NM_033101.4(LGALS12):c.833T>C (p.Leu278Pro)	LGALS12 (L239P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254437	NM_033101.4(LGALS12):c.34G>A (p.Asp12Asn)	LGALS12 (D12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224576	NM_033101.4(LGALS12):c.280C>T (p.Arg94Cys)	LGALS12 (R95C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215996	NM_033101.4(LGALS12):c.232T>C (p.Phe78Leu)	LGALS12 (F79L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212866	NM_033101.4(LGALS12):c.83T>C (p.Val28Ala)	LGALS12 (V28A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 980955	GRCh37/hg19 11q12.3(chr11:62714816-63383226)x3	LGALS12, SLC22A9 +9 more	Copy number gain	not provided	GUncertain significance
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 253837	GRCh37/hg19 11q12.3(chr11:63230830-63342467)x3	PLAAT3, PLAAT5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 29