"Ambry Genetics"[submitter] AND "IDI1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373975	NM_004508.4(IDI1):c.725A>C (p.Lys242Thr)	IDI2-AS1, IDI1 (K156T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218986	NM_004508.4(IDI1):c.700G>A (p.Glu234Lys)	IDI1, IDI2-AS1 (E178K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367944	NM_004508.4(IDI1):c.569G>T (p.Arg190Leu)	IDI1, IDI2-AS1 (R104L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615308	NM_004508.4(IDI1):c.534A>T (p.Glu178Asp)	IDI1, IDI2-AS1 (E178D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511241	NM_004508.4(IDI1):c.462G>C (p.Glu154Asp)	IDI1, IDI2-AS1 (E98D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287667	NM_004508.4(IDI1):c.428G>A (p.Cys143Tyr)	IDI1, IDI2-AS1 (C143Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268470	NM_004508.4(IDI1):c.233G>T (p.Cys78Phe)	IDI1, IDI2-AS1 +1 more (C22F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364070	NM_004508.4(IDI1):c.110C>T (p.Pro37Leu)	IDI1 (P37L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2329870	NM_004508.4(IDI1):c.34G>A (p.Gly12Ser)	IDI1 (G12S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274265	NM_004508.4(IDI1):c.26G>C (p.Arg9Pro)	IDI1 (R9P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance