Related gene-specific medical variations for Gene (Select 91734) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285256	NM_033261.3(IDI2):c.650C>T (p.Pro217Leu)	GTPBP4, IDI2 (P217L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 3108042	NM_033261.3(IDI2):c.620G>A (p.Arg207Gln)	GTPBP4, IDI2 (R207Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108041	NM_033261.3(IDI2):c.410A>T (p.Lys137Met)	GTPBP4, IDI2 (K137M)	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 2477416	NM_033261.3(IDI2):c.479C>T (p.Thr160Ile)	GTPBP4, IDI2 (T160I)	Single nucleotide variant (3 prime UTR 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 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 2321611	NM_033261.3(IDI2):c.555G>C (p.Arg185Ser)	GTPBP4, IDI2 (R185S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 2266803	NM_033261.3(IDI2):c.599T>C (p.Ile200Thr)	GTPBP4, IDI2 (I200T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257379	NM_033261.3(IDI2):c.627G>T (p.Trp209Cys)	GTPBP4, IDI2 (W209C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2252287	NM_033261.3(IDI2):c.609G>T (p.Arg203Ser)	GTPBP4, IDI2 (R203S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance