GTF2IRD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 792820	NM_005685.4(GTF2IRD1):c.27C>T (p.Asp9=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617482	NM_005685.4(GTF2IRD1):c.32C>T (p.Pro11Leu)	GTF2IRD1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773212	NM_005685.4(GTF2IRD1):c.39C>T (p.Asn13=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283070	NM_005685.4(GTF2IRD1):c.67G>A (p.Ala23Thr)	GTF2IRD1 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718537	NM_005685.4(GTF2IRD1):c.69G>A (p.Ala23=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301764	NM_005685.4(GTF2IRD1):c.77G>A (p.Arg26His)	GTF2IRD1 (R26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364139	NM_005685.4(GTF2IRD1):c.131C>T (p.Ala44Val)	GTF2IRD1 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2238218	NM_005685.4(GTF2IRD1):c.183C>A (p.Ser61Arg)	GTF2IRD1 (S61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620705	NM_005685.4(GTF2IRD1):c.184G>A (p.Ala62Thr)	GTF2IRD1 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547246	NM_005685.4(GTF2IRD1):c.193G>T (p.Val65Leu)	GTF2IRD1 (V65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103112	NM_005685.4(GTF2IRD1):c.266-79A>G	GTF2IRD1 (R95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103113	NM_005685.4(GTF2IRD1):c.266-51G>A	GTF2IRD1 (R104Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211393	NM_005685.4(GTF2IRD1):c.266-39G>C	GTF2IRD1 (R108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not provided	GLikely benign
Select item 1335672	NM_005685.4(GTF2IRD1):c.334C>T (p.Arg112Cys)	GTF2IRD1 (R112C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2471727	NM_005685.4(GTF2IRD1):c.335G>A (p.Arg112His)	GTF2IRD1 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510204	NM_005685.4(GTF2IRD1):c.347G>A (p.Arg116Gln)	GTF2IRD1 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733730	NM_005685.4(GTF2IRD1):c.441C>G (p.Ala147=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2657595	NM_005685.4(GTF2IRD1):c.447G>T (p.Val149=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711001	NM_005685.4(GTF2IRD1):c.450G>A (p.Val150=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725161	NM_005685.4(GTF2IRD1):c.474C>T (p.Leu158=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755566	NM_005685.4(GTF2IRD1):c.510C>T (p.Pro170=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	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 2308025	NM_005685.4(GTF2IRD1):c.556C>T (p.Leu186Phe)	GTF2IRD1 (L186F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395502	NM_005685.4(GTF2IRD1):c.584G>A (p.Arg195His)	GTF2IRD1 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283068	NM_005685.4(GTF2IRD1):c.589C>T (p.Arg197Cys)	GTF2IRD1 (R197C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283071	NM_005685.4(GTF2IRD1):c.601A>C (p.Lys201Gln)	GTF2IRD1 (K201Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790044	NM_005685.4(GTF2IRD1):c.625C>T (p.Arg209Trp)	GTF2IRD1 (R209W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 793352	NM_005685.4(GTF2IRD1):c.633G>A (p.Ser211=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691597	NM_005685.4(GTF2IRD1):c.646G>T (p.Glu216Ter)	GTF2IRD1 (E216* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
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)	not provided	GLikely benign
Select item 3103114	NM_005685.4(GTF2IRD1):c.676G>A (p.Gly226Arg)	GTF2IRD1 (G226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380207	NM_005685.4(GTF2IRD1):c.683G>A (p.Arg228Gln)	GTF2IRD1 (R228Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368510	NM_005685.4(GTF2IRD1):c.713A>T (p.Lys238Met)	GTF2IRD1 (K238M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751130	NM_005685.4(GTF2IRD1):c.732G>T (p.Leu244=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750584	NM_005685.4(GTF2IRD1):c.741C>T (p.Thr247=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784115	NM_005685.4(GTF2IRD1):c.758T>C (p.Met253Thr)	GTF2IRD1 (M285T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743768	NM_005685.4(GTF2IRD1):c.783G>A (p.Ala261=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374910	NM_005685.4(GTF2IRD1):c.791A>G (p.Asn264Ser)	GTF2IRD1 (N296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532385	NM_005685.4(GTF2IRD1):c.839C>T (p.Ala280Val)	GTF2IRD1 (A280V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 738617	NM_005685.4(GTF2IRD1):c.846C>T (p.Ser282=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323491	NM_005685.4(GTF2IRD1):c.860G>C (p.Ser287Thr)	GTF2IRD1 (S287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481569	NM_005685.4(GTF2IRD1):c.886A>G (p.Thr296Ala)	GTF2IRD1 (T296A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711039	NM_005685.4(GTF2IRD1):c.888C>T (p.Thr296=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756406	NM_005685.4(GTF2IRD1):c.906C>T (p.Ser302=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	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 3103104	NM_005685.4(GTF2IRD1):c.957C>G (p.Asn319Lys)	GTF2IRD1 (N351K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103105	NM_005685.4(GTF2IRD1):c.958G>T (p.Val320Phe)	GTF2IRD1 (V320F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709127	NM_005685.4(GTF2IRD1):c.966C>T (p.Ala322=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 208388	NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys)	GTF2IRD1 (R325C +1 more)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 719036	NM_005685.4(GTF2IRD1):c.978T>C (p.Ile326=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756506	NM_005685.4(GTF2IRD1):c.1035C>T (p.Thr345=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	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 743447	NM_005685.4(GTF2IRD1):c.1041C>T (p.Asp347=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103106	NM_005685.4(GTF2IRD1):c.1114A>G (p.Met372Val)	GTF2IRD1 (M404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286282	NM_005685.4(GTF2IRD1):c.1122C>T (p.Pro374=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745294	NM_005685.4(GTF2IRD1):c.1194C>T (p.Phe398=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1252746	NM_005685.4(GTF2IRD1):c.1212T>C (p.Tyr404=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1701642	NM_005685.4(GTF2IRD1):c.1288C>T (p.Arg430Ter)	GTF2IRD1 (R430* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 754756	NM_005685.4(GTF2IRD1):c.1300+9G>C	GTF2IRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3103107	NM_005685.4(GTF2IRD1):c.1307A>G (p.Lys436Arg)	GTF2IRD1 (K468R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596268	NM_005685.4(GTF2IRD1):c.1325C>T (p.Thr442Met)	GTF2IRD1 (T442M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333475	NM_005685.4(GTF2IRD1):c.1330C>G (p.Leu444Val)	GTF2IRD1 (L476V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589916	NM_005685.4(GTF2IRD1):c.1405G>A (p.Ala469Thr)	GTF2IRD1 (A501T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474516	NM_005685.4(GTF2IRD1):c.1408C>T (p.Arg470Trp)	GTF2IRD1 (R470W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741485	NM_005685.4(GTF2IRD1):c.1419G>A (p.Lys473=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768161	NM_005685.4(GTF2IRD1):c.1455C>T (p.Ser485=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757094	NM_005685.4(GTF2IRD1):c.1528+10G>A	GTF2IRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2323357	NM_005685.4(GTF2IRD1):c.1535C>T (p.Ser512Leu)	GTF2IRD1 (S544L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797481	NM_005685.4(GTF2IRD1):c.1581A>G (p.Pro527=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204877	NM_005685.4(GTF2IRD1):c.1588G>A (p.Asp530Asn)	GTF2IRD1 (D562N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762944	NM_005685.4(GTF2IRD1):c.1614G>A (p.Leu538=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103108	NM_005685.4(GTF2IRD1):c.1630A>C (p.Ser544Arg)	GTF2IRD1 (S544R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714348	NM_005685.4(GTF2IRD1):c.1640C>T (p.Ala547Val)	GTF2IRD1 (A547V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2386971	NM_005685.4(GTF2IRD1):c.1643G>A (p.Arg548Gln)	GTF2IRD1 (R548Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521571	NM_005685.4(GTF2IRD1):c.1648G>A (p.Glu550Lys)	GTF2IRD1 (E582K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713825	NM_005685.4(GTF2IRD1):c.1659C>T (p.Pro553=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2588360	NM_005685.4(GTF2IRD1):c.1660G>A (p.Val554Met)	GTF2IRD1 (V586M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283066	NM_005685.4(GTF2IRD1):c.1687C>T (p.Arg563Trp)	GTF2IRD1 (R563W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244874	NM_005685.4(GTF2IRD1):c.1688G>A (p.Arg563Gln)	GTF2IRD1 (R563Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747593	NM_005685.4(GTF2IRD1):c.1689G>T (p.Arg563=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556310	NM_005685.4(GTF2IRD1):c.1724C>T (p.Thr575Ile)	GTF2IRD1 (T575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725438	NM_005685.4(GTF2IRD1):c.1758C>T (p.Pro586=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738274	NM_005685.4(GTF2IRD1):c.1854C>T (p.Phe618=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103109	NM_005685.4(GTF2IRD1):c.1871G>A (p.Arg624Gln)	GTF2IRD1 (R624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 723007	NM_005685.4(GTF2IRD1):c.1966+9C>T	GTF2IRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776232	NM_005685.4(GTF2IRD1):c.1966+10G>A	GTF2IRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709128	NM_005685.4(GTF2IRD1):c.1995C>T (p.Asp665=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2296871	NM_005685.4(GTF2IRD1):c.1996G>A (p.Glu666Lys)	GTF2IRD1 (E698K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556312	NM_005685.4(GTF2IRD1):c.2000G>T (p.Ser667Ile)	GTF2IRD1 (S667I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283073	NM_005685.4(GTF2IRD1):c.2010A>C (p.Arg670Ser)	GTF2IRD1 (R670S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721277	NM_005685.4(GTF2IRD1):c.2050A>G (p.Ile684Val)	GTF2IRD1 (I699V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2262678	NM_005685.4(GTF2IRD1):c.2059G>T (p.Ala687Ser)	GTF2IRD1 (A702S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 782109	NM_005685.4(GTF2IRD1):c.2107+9T>C	GTF2IRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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