IRX4[gene] and "single gene"[properties] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257512	NM_016358.3(IRX4):c.*62C>T	IRX4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3286591	NM_016358.3(IRX4):c.1488C>A (p.Asp496Glu)	IRX4 (D496E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272678	NM_016358.3(IRX4):c.1431C>T (p.Gly477=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308027	NM_016358.3(IRX4):c.1406C>T (p.Pro469Leu)	IRX4 (P469L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295042	NM_016358.3(IRX4):c.1390C>T (p.Leu464Phe)	IRX4 (L490F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345710	NM_016358.3(IRX4):c.1382A>G (p.Lys461Arg)	IRX4 (K461R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236622	NM_016358.3(IRX4):c.1292C>T (p.Pro431Leu)	IRX4 (P431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315203	NM_016358.3(IRX4):c.1278G>T (p.Arg426Ser)	IRX4 (R452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286590	NM_016358.3(IRX4):c.1271T>A (p.Leu424Gln)	IRX4 (L424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110965	NM_016358.3(IRX4):c.1250C>A (p.Ala417Asp)	IRX4 (A443D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247023	NM_016358.3(IRX4):c.1203G>A (p.Ala401=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523432	NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)	IRX4 (P417L +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 734123	NM_016358.3(IRX4):c.1144G>T (p.Ala382Ser)	IRX4 (A382S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776036	NM_016358.3(IRX4):c.1122A>G (p.Thr374=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110964	NM_016358.3(IRX4):c.1100G>T (p.Arg367Leu)	IRX4 (R393L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544214	NM_016358.3(IRX4):c.1099C>T (p.Arg367Cys)	IRX4 (R367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350476	NM_016358.3(IRX4):c.1091C>T (p.Ala364Val)	IRX4 (A390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222675	NM_016358.3(IRX4):c.1078G>A (p.Ala360Thr)	IRX4 (A360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110963	NM_016358.3(IRX4):c.1069G>T (p.Gly357Trp)	IRX4 (G357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110962	NM_016358.3(IRX4):c.1021G>A (p.Glu341Lys)	IRX4 (E341K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315233	NM_016358.3(IRX4):c.992C>T (p.Ala331Val)	IRX4 (A331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286594	NM_016358.3(IRX4):c.991G>A (p.Ala331Thr)	IRX4 (A357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110967	NM_016358.3(IRX4):c.958C>A (p.Leu320Met)	IRX4 (L320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395695	NM_016358.3(IRX4):c.920C>G (p.Ser307Cys)	IRX4 (S333C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286589	NM_016358.3(IRX4):c.862C>A (p.Arg288Ser)	IRX4 (R314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286595	NM_016358.3(IRX4):c.762G>T (p.Glu254Asp)	IRX4 (E254D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1225866	NM_016358.3(IRX4):c.737-217_737-216dup	IRX4	Duplication (intron variant)	not provided	GBenign
Select item 1222896	NM_016358.3(IRX4):c.737-217dup	IRX4	Duplication (intron variant)	not provided	GBenign
Select item 1257826	NM_016358.3(IRX4):c.737-322G>A	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243402	NM_016358.3(IRX4):c.736+233C>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738956	NM_016358.3(IRX4):c.736+10G>A	IRX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328504	NM_016358.3(IRX4):c.690C>T (p.Gly230=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2574128	NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)	IRX4 (T191I +1 more)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2377230	NM_016358.3(IRX4):c.565G>A (p.Val189Ile)	IRX4 (V189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620971	NM_016358.3(IRX4):c.539T>C (p.Ile180Thr)	IRX4 (I180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282293	NM_016358.3(IRX4):c.493C>T (p.Arg165Cys)	IRX4 (R191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320587	NM_016358.3(IRX4):c.445G>A (p.Ala149Thr)	IRX4 (A149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277155	NM_016358.3(IRX4):c.407+251A>C	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3110966	NM_016358.3(IRX4):c.392A>C (p.Gln131Pro)	IRX4 (Q131P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260250	NM_016358.3(IRX4):c.381A>G (p.Pro127=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292919	NM_016358.3(IRX4):c.376G>A (p.Glu126Lys)	IRX4 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280723	NM_016358.3(IRX4):c.355G>A (p.Ala119Thr)	IRX4 (A119T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1289177	NM_016358.3(IRX4):c.298-235_298-223del	IRX4	Deletion (intron variant)	not provided	GBenign
Select item 1230286	NM_016358.3(IRX4):c.297+189A>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259913	NM_016358.3(IRX4):c.297+6T>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3236540	NM_016358.3(IRX4):c.240G>A (p.Ser80=)	IRX4	Single nucleotide variant (synonymous variant)	See cases	GPathogenic
Select item 2238701	NM_016358.3(IRX4):c.186C>G (p.His62Gln)	IRX4 (H62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609085	NM_016358.3(IRX4):c.161G>A (p.Ser54Asn)	IRX4 (S54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398861	NM_016358.3(IRX4):c.136C>T (p.Pro46Ser)	IRX4 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620547	NM_016358.3(IRX4):c.130C>A (p.Gln44Lys)	IRX4 (Q44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297707	NM_016358.3(IRX4):c.99G>T (p.Thr33=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286846	NM_016358.3(IRX4):c.90A>C (p.Gly30=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2574127	NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)	IRX4 (S24N)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2234134	NM_016358.3(IRX4):c.68T>C (p.Leu23Pro)	IRX4 (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281176	NM_016358.3(IRX4):c.46-107G>C	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260777	NM_016358.3(IRX4):c.46-213G>C	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220726	NM_016358.3(IRX4):c.46-270A>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246881	NM_016358.3(IRX4):c.45+138C>T	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3286593	NM_016358.3(IRX4):c.43C>G (p.Gln15Glu)	IRX4 (Q15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555009	NM_016358.3(IRX4):c.38C>T (p.Ala13Val)	IRX4 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454582	NM_016358.3(IRX4):c.32C>G (p.Ser11Cys)	IRX4 (S11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488787	NM_016358.3(IRX4):c.2T>C (p.Met1Thr)	IRX4 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287425	NM_016358.3(IRX4):c.-139G>A	IRX4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1288615	NM_016358.3(IRX4):c.-179T>G	IRX4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244784	NM_016358.3(IRX4):c.-191G>T	IRX4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260507	NM_001278632.1(IRX4):c.-100-186dup	IRX4	Duplication (intron variant)	not provided	GBenign
Select item 1286188	NM_001278632.1(IRX4):c.-100-303A>G	IRX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2684405	GRCh37/hg19 5p15.33(chr5:1861607-2217475)x3	IRX4	Copy number gain	not provided	GUncertain significance

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Items: 68