"PreventionGenetics, part of Exact Sciences"[submitter] AND "PAX4"[gen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358791	NM_001366110.1(PAX4):c.*211A>G	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GBenign
Select item 3047875	NM_001366110.1(PAX4):c.*192C>T	PAX4 (P343S)	Single nucleotide variant (3 prime UTR variant +1 more)	PAX4-related disorder	GLikely benign
Select item 358792	NM_001366110.1(PAX4):c.*190C>T	PAX4 (T342I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3031172	NM_001366110.1(PAX4):c.*165C>T	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	PAX4-related disorder	GLikely benign
Select item 129878	NM_001366110.1(PAX4):c.986A>C (p.His329Pro)	PAX4 (H329P)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Monogenic diabetes +3 more	GUncertain significance
Select item 436159	NM_001366110.1(PAX4):c.868T>C (p.Cys290Arg)	PAX4 (C290R)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1359441	NM_001366110.1(PAX4):c.771+6C>T	PAX4	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 9 +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 specified +5 more	GLikely benign
Select item 3033427	NM_001366110.1(PAX4):c.680G>A (p.Arg227Gln)	PAX4 (R227Q)	Single nucleotide variant (missense variant)	PAX4-related disorder	GBenign
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 1957607	NM_001366110.1(PAX4):c.562+10T>C	PAX4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 1571696	NM_001366110.1(PAX4):c.498C>T (p.His166=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 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 358806	NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)	PAX4 (R105C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 549523	NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)	PAX4 (G71C)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 1583240	NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)	PAX4 (R39L)	Single nucleotide variant (missense variant)	Diabetes mellitus, ketosis-prone +4 more	GLikely benign
Select item 2443200	NM_001366110.1(PAX4):c.115C>G (p.Arg39Gly)	PAX4 (R39G)	Single nucleotide variant (missense variant)	PAX4-related disorder	GUncertain significance
Select item 2673127	NM_001366110.1(PAX4):c.96G>A (p.Arg32=)	PAX4	Single nucleotide variant (synonymous variant)	PAX4-related disorder +1 more	GLikely benign
Select item 2636413	NM_001366110.1(PAX4):c.53A>C (p.Asn18Thr)	PAX4 (N18T)	Single nucleotide variant (missense variant)	PAX4-related disorder	GUncertain significance
Select item 2632284	NM_001366110.1(PAX4):c.14-2A>G	PAX4	Single nucleotide variant (splice acceptor variant)	PAX4-related disorder	GUncertain significance
Select item 3061473	NM_001366110.1(PAX4):c.13+9C>T	PAX4	Single nucleotide variant (intron variant)	PAX4-related disorder	GLikely benign
Select item 3052553	NM_001366110.1(PAX4):c.13G>A (p.Gly5Arg)	PAX4 (G5R)	Single nucleotide variant (missense variant)	PAX4-related disorder	GLikely benign

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Items: 25