"PreventionGenetics, part of Exact Sciences"[submitter] AND "GTF2IRD1" - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718537	NM_005685.4(GTF2IRD1):c.69G>A (p.Ala23=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3052850	NM_005685.4(GTF2IRD1):c.147C>T (p.Asn49=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 3057421	NM_005685.4(GTF2IRD1):c.266-20G>C	GTF2IRD1	Single nucleotide variant (synonymous variant +1 more)	GTF2IRD1-related disorder	GLikely benign
Select item 1176228	NM_005685.4(GTF2IRD1):c.266-20G>A	GTF2IRD1	Single nucleotide variant (synonymous variant +1 more)	GTF2IRD1-related disorder +1 more	GBenign/Likely benign
Select item 733730	NM_005685.4(GTF2IRD1):c.441C>G (p.Ala147=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 725161	NM_005685.4(GTF2IRD1):c.474C>T (p.Leu158=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder +1 more	GLikely benign
Select item 3058945	NM_005685.4(GTF2IRD1):c.513A>G (p.Glu171=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GBenign
Select item 3053613	NM_005685.4(GTF2IRD1):c.654C>T (p.Asn218=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 745769	NM_005685.4(GTF2IRD1):c.660C>T (p.Val220=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder +1 more	GLikely benign
Select item 750584	NM_005685.4(GTF2IRD1):c.741C>T (p.Thr247=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 784115	NM_005685.4(GTF2IRD1):c.758T>C (p.Met253Thr)	GTF2IRD1 (M285T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 738617	NM_005685.4(GTF2IRD1):c.846C>T (p.Ser282=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder +1 more	GLikely benign
Select item 3035187	NM_005685.4(GTF2IRD1):c.951C>A (p.Ile317=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 2636731	NM_005685.4(GTF2IRD1):c.1036G>T (p.Glu346Ter)	GTF2IRD1 (E346* +1 more)	Single nucleotide variant (nonsense)	GTF2IRD1-related disorder	GUncertain significance
Select item 1286282	NM_005685.4(GTF2IRD1):c.1122C>T (p.Pro374=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder +1 more	GBenign
Select item 1252746	NM_005685.4(GTF2IRD1):c.1212T>C (p.Tyr404=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 754756	NM_005685.4(GTF2IRD1):c.1300+9G>C	GTF2IRD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 768161	NM_005685.4(GTF2IRD1):c.1455C>T (p.Ser485=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 713825	NM_005685.4(GTF2IRD1):c.1659C>T (p.Pro553=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 725438	NM_005685.4(GTF2IRD1):c.1758C>T (p.Pro586=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder +1 more	GLikely benign
Select item 3034805	NM_005685.4(GTF2IRD1):c.1920C>T (p.Pro640=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 3060725	NM_005685.4(GTF2IRD1):c.1954A>G (p.Met652Val)	GTF2IRD1 (M652V +1 more)	Single nucleotide variant (missense variant)	GTF2IRD1-related disorder	GBenign
Select item 709128	NM_005685.4(GTF2IRD1):c.1995C>T (p.Asp665=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 721277	NM_005685.4(GTF2IRD1):c.2050A>G (p.Ile684Val)	GTF2IRD1 (I699V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3051797	NM_005685.4(GTF2IRD1):c.2106C>T (p.Tyr702=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 3037668	NM_005685.4(GTF2IRD1):c.2108-8G>A	GTF2IRD1	Single nucleotide variant (intron variant)	GTF2IRD1-related disorder	GBenign
Select item 3058513	NM_005685.4(GTF2IRD1):c.2211C>T (p.Phe737=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 796858	NM_005685.4(GTF2IRD1):c.2703G>A (p.Ser901=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 28