Related gene-specific medical variations for Gene (Select 55853) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108043	NM_033261.3(IDI2):c.94G>C (p.Gly32Arg)	IDI2, IDI2-AS1 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108037	NM_033261.3(IDI2):c.220A>G (p.Lys74Glu)	IDI2, IDI2-AS1 (K74E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3108036	NM_033261.3(IDI2):c.191G>A (p.Arg64Gln)	IDI2, IDI2-AS1 (R64Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3108035	NM_004508.4(IDI1):c.656A>C (p.Asn219Thr)	IDI1, IDI2-AS1 (N133T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108032	NM_004508.4(IDI1):c.211G>C (p.Val71Leu)	IDI1, IDI2-AS1 +1 more (V15L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2611574	NM_033261.3(IDI2):c.92T>C (p.Ile31Thr)	IDI2, IDI2-AS1 (I31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600569	NM_033261.3(IDI2):c.110G>A (p.Arg37Lys)	IDI2, IDI2-AS1 (R37K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525782	NM_033261.3(IDI2):c.151C>T (p.His51Tyr)	IDI2, IDI2-AS1 (H51Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2387358	NM_033261.3(IDI2):c.155G>A (p.Arg52Gln)	IDI2, IDI2-AS1 (R52Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373975	NM_004508.4(IDI1):c.725A>C (p.Lys242Thr)	IDI1, IDI2-AS1 (K156T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2365161	NM_033261.3(IDI2):c.223G>A (p.Val75Ile)	IDI2, IDI2-AS1 (V75I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2320669	NM_033261.3(IDI2):c.164G>A (p.Ser55Asn)	IDI2, IDI2-AS1 (S55N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298412	NM_033261.3(IDI2):c.30C>G (p.Asp10Glu)	IDI2, IDI2-AS1 (D10E)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance