ClinVar for Gene (Select 114571) - 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 2690002	NM_080866.3(SLC22A9):c.402+1G>A	SLC22A9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 2618405	NM_080866.3(SLC22A9):c.859A>G (p.Ile287Val)	SLC22A9 (I287V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610872	NM_080866.3(SLC22A9):c.1658T>G (p.Phe553Cys)	SLC22A9 (F553C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601528	NM_080866.3(SLC22A9):c.1232T>C (p.Met411Thr)	SLC22A9 (M411T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589678	NM_080866.3(SLC22A9):c.337A>C (p.Met113Leu)	SLC22A9 (M113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553453	NM_080866.3(SLC22A9):c.918T>A (p.Ser306Arg)	SLC22A9 (S306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546599	NM_080866.3(SLC22A9):c.1223C>G (p.Ala408Gly)	SLC22A9 (A408G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518492	NM_080866.3(SLC22A9):c.1333G>A (p.Ala445Thr)	SLC22A9 (A445T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466705	NM_080866.3(SLC22A9):c.14A>G (p.Asp5Gly)	SLC22A9 (D5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465842	NM_080866.3(SLC22A9):c.185A>G (p.Asn62Ser)	SLC22A9 (N62S)	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 2389192	NM_080866.3(SLC22A9):c.352G>C (p.Asp118His)	SLC22A9 (D118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381150	NM_080866.3(SLC22A9):c.607C>T (p.Arg203Cys)	SLC22A9 (R203C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272601	NM_080866.3(SLC22A9):c.356G>T (p.Gly119Val)	SLC22A9 (G119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259489	NM_080866.3(SLC22A9):c.1174C>G (p.Leu392Val)	SLC22A9 (L392V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236330	NM_080866.3(SLC22A9):c.131T>C (p.Ile44Thr)	SLC22A9 (I44T)	Single nucleotide variant (missense variant)	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 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: 25