GTF2IRD2B[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2390165	NM_001003795.3(GTF2IRD2B):c.302C>T (p.Ser101Leu)	GTF2IRD2B (S263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377042	NM_001003795.3(GTF2IRD2B):c.307G>A (p.Glu103Lys)	GTF2IRD2B (E103K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283074	NM_001003795.3(GTF2IRD2B):c.311C>T (p.Thr104Met)	GTF2IRD2B (T266M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207587	NM_001003795.3(GTF2IRD2B):c.422C>T (p.Ser141Leu)	GTF2IRD2B (S141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103117	NM_001003795.3(GTF2IRD2B):c.446C>T (p.Pro149Leu)	GTF2IRD2B (P149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600275	NM_001003795.3(GTF2IRD2B):c.761C>G (p.Ser254Cys)	GTF2IRD2B (S254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228845	NM_001003795.3(GTF2IRD2B):c.770G>A (p.Ser257Asn)	GTF2IRD2B (S257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103118	NM_001003795.3(GTF2IRD2B):c.886T>A (p.Ser296Thr)	GTF2IRD2B (S458T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657608	NM_001003795.3(GTF2IRD2B):c.2628G>C (p.Thr876=)	GTF2IRD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign