Related gene-specific medical variations for Gene (Select 84163) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103115	NM_173537.5(GTF2IRD2):c.365C>T (p.Ala122Val)	GTF2IRD2, LOC106029312 (A284V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2657606	NM_173537.5(GTF2IRD2):c.6C>G (p.Ala2=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657605	NM_173537.5(GTF2IRD2):c.91G>A (p.Glu31Lys)	GTF2IRD2, LOC106029312 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657604	NM_173537.5(GTF2IRD2):c.491C>T (p.Thr164Ile)	GTF2IRD2, LOC106029312 (T164I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2657603	NM_173537.5(GTF2IRD2):c.630C>T (p.Cys210=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657602	NM_173537.5(GTF2IRD2):c.2146C>T (p.Arg716Cys)	GTF2IRD2, LOC106029312 (R524C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2611433	NM_173537.5(GTF2IRD2):c.611T>C (p.Val204Ala)	GTF2IRD2, LOC106029312 (V204A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540850	NM_173537.5(GTF2IRD2):c.563G>A (p.Ser188Asn)	GTF2IRD2, LOC106029312 (S188N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521254	NM_173537.5(GTF2IRD2):c.332T>C (p.Val111Ala)	GTF2IRD2, LOC106029312 (V111A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487048	NM_173537.5(GTF2IRD2):c.68T>G (p.Val23Gly)	GTF2IRD2, LOC106029312 (V185G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467509	NM_173537.5(GTF2IRD2):c.488C>T (p.Ala163Val)	GTF2IRD2, LOC106029312 (A163V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467508	NM_173537.5(GTF2IRD2):c.487G>T (p.Ala163Ser)	GTF2IRD2, LOC106029312 (A163S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363676	NM_173537.5(GTF2IRD2):c.434T>C (p.Val145Ala)	GTF2IRD2, LOC106029312 (V307A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272055	NM_173537.5(GTF2IRD2):c.605C>A (p.Ser202Tyr)	GTF2IRD2, LOC106029312 (S32Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250938	NM_173537.5(GTF2IRD2):c.209C>T (p.Thr70Met)	GTF2IRD2, LOC106029312 (T232M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769216	NM_173537.5(GTF2IRD2):c.303A>G (p.Ser101=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688219	GRCh37/hg19 7q11.23(chr7:74245598-74366737)x1	GTF2IRD2	Copy number loss	not provided	GUncertain significance
Select item 686090	GRCh37/hg19 7q11.23(chr7:74231100-74315640)x1	GTF2IRD2	Copy number loss	not provided	GUncertain significance
Select item 252793	NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)	GTF2IRD2, LOC106029312 (E103K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance