ITGA9-AS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2324263	NM_002207.3(ITGA9):c.2582C>T (p.Pro861Leu)	ITGA9, ITGA9-AS1 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322434	NM_002207.3(ITGA9):c.2614A>G (p.Asn872Asp)	ITGA9, ITGA9-AS1 (N872D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558767	NM_002207.3(ITGA9):c.2662G>A (p.Val888Ile)	ITGA9, ITGA9-AS1 (V888I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 94048	NM_002207.3(ITGA9):c.2667+32G>A	ITGA9, ITGA9-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 705397	NM_002207.3(ITGA9):c.2741G>A (p.Arg914His)	ITGA9, ITGA9-AS1 (R914H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608420	NM_002207.3(ITGA9):c.2814G>A (p.Met938Ile)	ITGA9, ITGA9-AS1 (M938I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046014	NM_002207.3(ITGA9):c.2820C>T (p.Arg940=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 3286752	NM_002207.3(ITGA9):c.2821G>A (p.Ala941Thr)	ITGA9, ITGA9-AS1 (A941T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469010	NM_002207.3(ITGA9):c.2850G>C (p.Arg950Ser)	ITGA9, ITGA9-AS1 (R950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388727	NM_002207.3(ITGA9):c.2888C>T (p.Thr963Met)	ITGA9, ITGA9-AS1 (T963M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3350311	NM_002207.3(ITGA9):c.2890-9G>C	ITGA9, ITGA9-AS1	Single nucleotide variant (intron variant)	ITGA9-related disorder	GLikely benign
Select item 697697	NM_002207.3(ITGA9):c.2967G>A (p.Val989=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233065	NM_002207.3(ITGA9):c.2973C>G (p.Ile991Met)	ITGA9, ITGA9-AS1 (I991M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 701915	NM_002207.3(ITGA9):c.2994C>T (p.Ala998=)	ITGA9-AS1, ITGA9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044453	NM_002207.3(ITGA9):c.3045C>T (p.Ile1015=)	ITGA9, ITGA9-AS1	Single nucleotide variant (synonymous variant)	ITGA9-related disorder	GLikely benign
Select item 2347764	NM_002207.3(ITGA9):c.3061C>T (p.Arg1021Trp)	ITGA9, ITGA9-AS1 (R1021W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20