ClinVar for MedGen (Select 383033) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584566	NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)	PAX4	Deletion (inframe_deletion)	Diabetes mellitus, ketosis-prone +2 more	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 2502226	NM_001366110.1(PAX4):c.779dup (p.Gly261fs)	PAX4 (G261fs)	Duplication (frameshift variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2502166	NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)	PAX4 (V152I)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2236365	NM_001366110.1(PAX4):c.677G>A (p.Arg226His)	PAX4 (R226H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1803877	NM_001366110.1(PAX4):c.-101_-100+2del	PAX4	Deletion (splice donor variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1660102	NM_001366110.1(PAX4):c.144+16C>T	PAX4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1617511	NM_001366110.1(PAX4):c.563-11G>A	PAX4	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 9 +3 more	GLikely benign
Select item 1583240	NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)	PAX4 (R39L)	Single nucleotide variant (missense variant)	PAX4-related disorder +4 more	GLikely benign
Select item 1571696	NM_001366110.1(PAX4):c.498C>T (p.His166=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 9 +4 more	GLikely benign
Select item 1570070	NM_001366110.1(PAX4):c.345G>A (p.Gln115=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 9 +3 more	GBenign/Likely 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 1359441	NM_001366110.1(PAX4):c.771+6C>T	PAX4	Single nucleotide variant (intron variant)	PAX4-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1345146	NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)	PAX4 (A338V)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 9 +2 more	GConflicting classifications of pathogenicity
Select item 1336936	NM_001366110.1(PAX4):c.762C>T (p.Ile254=)	PAX4	Single nucleotide variant (synonymous variant)	PAX4-related disorder +5 more	GLikely benign
Select item 1320922	NM_001366110.1(PAX4):c.69T>C (p.Pro23=)	PAX4	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +3 more	GBenign/Likely benign
Select item 1316203	NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)	PAX4 (R226C)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1315885	NM_001366110.1(PAX4):c.179G>A (p.Arg60His)	PAX4 (R60H)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1201272	NM_001366110.1(PAX4):c.636C>T (p.Asp212=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 549523	NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)	PAX4 (G71C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +5 more	GConflicting classifications of pathogenicity
Select item 438677	NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)	PAX4 (S180N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9	GUncertain significance
Select item 358808	NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)	PAX4 (R39Q)	Single nucleotide variant (missense variant)	Diabetes mellitus, ketosis-prone +4 more	GBenign/Likely benign
Select item 358807	NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)	PAX4 (R87Q)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 358802	NM_001366110.1(PAX4):c.572G>A (p.Arg191His)	PAX4 (R191H)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 129874	NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)	PAX4 (R172Q)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 13794	NM_001366110.1(PAX4):c.772-1G>A	PAX4	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 9	GPathogenic
Select item 13793	NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)	PAX4 (R172W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13792	NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)	PAX4 (R45W)	Single nucleotide variant (missense variant)	Hyperglycemia +4 more	GConflicting classifications of pathogenicity

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Items: 28