"Ambry Genetics"[submitter] AND "GDI1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281159	NM_001493.3(GDI1):c.22A>G (p.Ile8Val)	GDI1 (I8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099276	NM_001493.3(GDI1):c.130T>G (p.Ser44Ala)	GDI1 (S44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129148	NM_001493.3(GDI1):c.154-3C>T	GDI1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 129149	NM_001493.3(GDI1):c.219T>C (p.Asn73=)	GDI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2606661	NM_001493.3(GDI1):c.254-3C>T	GDI1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 129150	NM_001493.3(GDI1):c.324C>T (p.Ser108=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 588779	NM_001493.3(GDI1):c.383C>G (p.Ala128Gly)	GDI1 (A128G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 520583	NM_001493.3(GDI1):c.412C>T (p.Arg138Trp)	GDI1 (R138W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686406	NM_001493.3(GDI1):c.491A>C (p.Gln164Pro)	GDI1 (Q164P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 587921	NM_001493.3(GDI1):c.570G>A (p.Ala190=)	GDI1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1749966	NM_001493.3(GDI1):c.582T>C (p.Thr194=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 792924	NM_001493.3(GDI1):c.588C>T (p.Asp196=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2526357	NM_001493.3(GDI1):c.616G>A (p.Val206Ile)	GDI1 (V206I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1758148	NM_001493.3(GDI1):c.729C>T (p.Ala243=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 521670	NM_001493.3(GDI1):c.819+1G>A	GDI1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3238988	NM_001493.3(GDI1):c.827G>A (p.Arg276His)	GDI1 (R276H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589588	NM_001493.3(GDI1):c.865G>C (p.Asp289His)	GDI1 (D289H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099277	NM_001493.3(GDI1):c.880G>A (p.Ala294Thr)	GDI1 (A294T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764812	NM_001493.3(GDI1):c.882T>C (p.Ala294=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589061	NM_001493.3(GDI1):c.909C>T (p.Ile303=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1784020	NM_001493.3(GDI1):c.1006A>C (p.Met336Leu)	GDI1 (M336L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193633	NM_001493.3(GDI1):c.1167C>T (p.Pro389=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1337192	NM_001493.3(GDI1):c.1212C>T (p.Tyr404=)	GDI1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3099275	NM_001493.3(GDI1):c.1243A>G (p.Asn415Asp)	GDI1 (N415D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768095	NM_001493.3(GDI1):c.1281G>A (p.Thr427=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2552657	NM_001493.3(GDI1):c.1282G>A (p.Ala428Thr)	GDI1 (A428T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3281157	NM_001493.3(GDI1):c.1288G>A (p.Asp430Asn)	GDI1 (D430N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769810	NM_001493.3(GDI1):c.1317C>T (p.Asn439=)	GDI1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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Items: 28