"Invitae"[submitter] AND "PAX4"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684984	NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter)	PAX4 (W341*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1345146	NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)	PAX4 (A338V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129878	NM_001366110.1(PAX4):c.986A>C (p.His329Pro)	PAX4 (H329P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 393408	NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu)	PAX4 (P311L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1524214	NM_001366110.1(PAX4):c.914G>A (p.Gly305Asp)	PAX4 (G305D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928118	NM_001366110.1(PAX4):c.894C>T (p.Ala298=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436159	NM_001366110.1(PAX4):c.868T>C (p.Cys290Arg)	PAX4 (C290R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1522069	NM_001366110.1(PAX4):c.800C>T (p.Ala267Val)	PAX4 (A267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505122	NM_001366110.1(PAX4):c.776C>A (p.Ser259Tyr)	PAX4 (S259Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358798	NM_001366110.1(PAX4):c.772-13dup	PAX4	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358799	NM_001366110.1(PAX4):c.772-3del	PAX4	Deletion (intron variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 2506264	NM_001366110.1(PAX4):c.772-10T>C	PAX4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1905534	NM_001366110.1(PAX4):c.772-18C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1359441	NM_001366110.1(PAX4):c.771+6C>T	PAX4	Single nucleotide variant (intron variant)	Diabetes mellitus, ketosis-prone +4 more	GConflicting classifications of pathogenicity
Select item 1336936	NM_001366110.1(PAX4):c.762C>T (p.Ile254=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 2980581	NM_001366110.1(PAX4):c.761T>C (p.Ile254Thr)	PAX4 (I254T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868010	NM_001366110.1(PAX4):c.715+15C>G	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871985	NM_001366110.1(PAX4):c.693C>T (p.Leu231=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970834	NM_001366110.1(PAX4):c.677G>T (p.Arg226Leu)	PAX4 (R226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316203	NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)	PAX4 (R226C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 358800	NM_001366110.1(PAX4):c.646-7C>T	PAX4	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 1448516	NM_001366110.1(PAX4):c.638C>T (p.Thr213Met)	PAX4 (T213M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201272	NM_001366110.1(PAX4):c.636C>T (p.Asp212=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 9 +4 more	GBenign/Likely benign
Select item 129875	NM_001366110.1(PAX4):c.599G>A (p.Arg200His)	PAX4 (R200H)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 358801	NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser)	PAX4 (R200S)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 358802	NM_001366110.1(PAX4):c.572G>A (p.Arg191His)	PAX4 (R191H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +4 more	GUncertain significance
Select item 358803	NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)	PAX4 (R191C)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 2189012	NM_001366110.1(PAX4):c.563-5C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617511	NM_001366110.1(PAX4):c.563-11G>A	PAX4	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 2967217	NM_001366110.1(PAX4):c.563-12C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957607	NM_001366110.1(PAX4):c.562+10T>C	PAX4	Single nucleotide variant (intron variant)	PAX4-related condition +1 more	GLikely benign
Select item 1336068	NM_001366110.1(PAX4):c.545C>T (p.Ala182Val)	PAX4 (A182V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 129877	NM_001366110.1(PAX4):c.543A>G (p.Gln181=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 1903705	NM_001366110.1(PAX4):c.521G>A (p.Arg174Gln)	PAX4 (R174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129874	NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)	PAX4 (R172Q)	Single nucleotide variant (missense variant)	Diabetes mellitus, ketosis-prone +4 more	GUncertain significance
Select item 13793	NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)	PAX4 (R172W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011073	NM_001366110.1(PAX4):c.513C>T (p.His171=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167862	NM_001366110.1(PAX4):c.508G>A (p.Gly170Ser)	PAX4 (G170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571696	NM_001366110.1(PAX4):c.498C>T (p.His166=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1381394	NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)	PAX4 (R163Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 129876	NM_001366110.1(PAX4):c.474C>T (p.Gly158=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1484638	NM_001366110.1(PAX4):c.467A>G (p.His156Arg)	PAX4 (H156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358804	NM_001366110.1(PAX4):c.456C>T (p.Val152=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2808962	NM_001366110.1(PAX4):c.451G>C (p.Ala151Pro)	PAX4 (A151P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13791	NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp)	PAX4 (R141W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 13790	NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)	PAX4 (R129W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1570070	NM_001366110.1(PAX4):c.345G>A (p.Gln115=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2908092	NM_001366110.1(PAX4):c.340A>T (p.Thr114Ser)	PAX4 (T114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006315	NM_001366110.1(PAX4):c.332G>T (p.Gly111Val)	PAX4 (G111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358806	NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)	PAX4 (R105C)	Single nucleotide variant (missense variant)	PAX4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 358807	NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)	PAX4 (R87Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +4 more	GUncertain significance
Select item 2871094	NM_001366110.1(PAX4):c.248C>G (p.Pro83Arg)	PAX4 (P83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871095	NM_001366110.1(PAX4):c.242C>A (p.Thr81Lys)	PAX4 (T81K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420898	NM_001366110.1(PAX4):c.233G>A (p.Arg78Gln)	PAX4 (R78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580177	NM_001366110.1(PAX4):c.225C>G (p.Ser75Arg)	PAX4 (S75R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 549523	NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)	PAX4 (G71C)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 1464867	NM_001366110.1(PAX4):c.181T>C (p.Tyr61His)	PAX4 (Y61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620539	NM_001366110.1(PAX4):c.175G>C (p.Gly59Arg)	PAX4 (G59R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1660102	NM_001366110.1(PAX4):c.144+16C>T	PAX4	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 9 +3 more	GBenign/Likely benign
Select item 1318473	NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln)	PAX4 (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13792	NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)	PAX4 (R45W)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +4 more	GConflicting classifications of pathogenicity
Select item 1405247	NM_001366110.1(PAX4):c.118C>A (p.Pro40Thr)	PAX4 (P40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583240	NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)	PAX4 (R39L)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 358808	NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)	PAX4 (R39Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +4 more	GBenign/Likely benign
Select item 1350407	NM_001366110.1(PAX4):c.94C>G (p.Arg32Gly)	PAX4 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425526	NM_001366110.1(PAX4):c.80G>A (p.Arg27Gln)	PAX4 (R27Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065637	NM_001366110.1(PAX4):c.77C>G (p.Thr26Ser)	PAX4 (T26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544850	NM_001366110.1(PAX4):c.72G>T (p.Leu24=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320922	NM_001366110.1(PAX4):c.69T>C (p.Pro23=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1394523	NM_001366110.1(PAX4):c.58C>G (p.Arg20Gly)	PAX4 (R20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111668	NM_001366110.1(PAX4):c.42G>A (p.Gly14=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 71