ClinVar for MedGen (Select 355451) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024075	NM_002700.3(POU4F3):c.494_497del (p.His165fs)	LOC127814297, POU4F3 (H165fs)	Deletion (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 2664430	NM_002700.3(POU4F3):c.675A>T (p.Gln225His)	LOC127814297, POU4F3 (Q225H)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 2572022	NM_002700.3(POU4F3):c.499G>A (p.Val167Met)	LOC127814297, POU4F3 (V167M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	Gnot provided
Select item 2502855	NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)	LOC127814297, POU4F3 (F293L)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 2502854	NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)	LOC127814297, POU4F3 (L248P)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 2502853	NM_002700.3(POU4F3):c.564dup (p.Ala189fs)	POU4F3, LOC127814297 (A189fs)	Duplication (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1712312	NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)	LOC127814297, POU4F3 (G202R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 1710225	NM_002700.3(POU4F3):c.960del (p.Trp321fs)	LOC127814297, POU4F3 (W321fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 1705548	NM_002700.3(POU4F3):c.479del (p.Gly160fs)	LOC127814297, POU4F3 (G160fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 1699941	NM_002700.3(POU4F3):c.37del (p.His13fs)	LOC127814297, POU4F3 (H13fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1687177	NM_002700.3(POU4F3):c.66del (p.Ser23fs)	LOC127814297, POU4F3 (S23fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1523782	NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys)	LOC127814297, POU4F3 (Q249K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334110	NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter)	LOC127814297, POU4F3 (E232*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1334107	NM_002700.3(POU4F3):c.54del (p.Glu18fs)	LOC127814297, POU4F3 (E18fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1299383	NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)	LOC127814297, POU4F3 (P125S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 1297744	NM_002700.3(POU4F3):c.952G>A (p.Val318Met)	LOC127814297, POU4F3 (V318M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 1185608	NM_002700.3(POU4F3):c.770C>T (p.Ala257Val)	POU4F3, LOC127814297 (A257V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 1164004	NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter)	LOC127814297, POU4F3 (Q296*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 973500	NM_002700.3(POU4F3):c.184del (p.Ala62fs)	LOC127814297, POU4F3 (A62fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 973499	NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro)	LOC127814297, POU4F3 (L212P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 973498	NM_002700.3(POU4F3):c.325C>T (p.His109Tyr)	LOC127814297, POU4F3 (H109Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 973497	NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp)	LOC127814297, POU4F3 (E232D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GLikely pathogenic
Select item 907694	NM_002700.3(POU4F3):c.24G>A (p.Gln8=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905157	NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala)	LOC127814297, POU4F3 (G202A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 905156	NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro)	LOC127814297, POU4F3 (L201P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904356	NM_002700.3(POU4F3):c.508C>T (p.His170Tyr)	LOC127814297, POU4F3 (H170Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 904355	NM_002700.3(POU4F3):c.405G>A (p.Pro135=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GConflicting classifications of pathogenicity
Select item 904354	NM_002700.3(POU4F3):c.309C>T (p.Leu103=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904353	NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu)	LOC127814297, POU4F3 (A61E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 873502	NM_002700.3(POU4F3):c.327C>A (p.His109Gln)	LOC127814297, POU4F3 (H109Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 667155	NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)	LOC127814297, POU4F3 (H99Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GConflicting classifications of pathogenicity
Select item 618334	NM_002700.3(POU4F3):c.171C>G (p.Ala57=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 546983	NM_002700.3(POU4F3):c.214C>G (p.His72Asp)	LOC127814297, POU4F3 (H72D)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 504672	NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg)	LOC127814297, POU4F3 (S171R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 373997	NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)	POU4F3, LOC127814297 (R185C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 372853	NM_002700.3(POU4F3):c.502del (p.Ala168fs)	LOC127814297, POU4F3 (A168fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 351386	NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)	LOC127814297, POU4F3 (N316K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 351384	NM_002700.3(POU4F3):c.624G>A (p.Val208=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +1 more	GConflicting classifications of pathogenicity
Select item 351383	NM_002700.3(POU4F3):c.591G>A (p.Arg197=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 351382	NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys)	LOC127814297, POU4F3 (R193C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 351381	NM_002700.3(POU4F3):c.442C>T (p.His148Tyr)	LOC127814297, POU4F3 (H148Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 351380	NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp)	LOC127814297, POU4F3 (A38D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 351379	NM_002700.3(POU4F3):c.-44C>A	LOC127814297, POU4F3	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 351378	NM_002700.3(POU4F3):c.-79C>A	LOC127814297, POU4F3	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 15	GUncertain significance
Select item 227856	NM_002700.3(POU4F3):c.792C>T (p.Ser264=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 178630	NM_002700.3(POU4F3):c.378G>A (p.Thr126=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 164983	NM_002700.3(POU4F3):c.663C>A (p.Gly221=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 164981	NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser)	LOC127814297, POU4F3 (P135S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 101525	NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)	LOC127814297, POU4F3 (G221fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 96710	NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys)	LOC127814297, POU4F3 (R326K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 44583	NM_002700.3(POU4F3):c.90C>T (p.Ala30=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GBenign
Select item 44579	NM_002700.3(POU4F3):c.837G>T (p.Thr279=)	POU4F3, LOC127814297	Single nucleotide variant (synonymous variant)	POU4F3-related condition +3 more	GBenign
Select item 7080	NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro)	LOC127814297, POU4F3 (L223P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7079	NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe)	LOC127814297, POU4F3 (L289F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 7078	NM_002700.3(POU4F3):c.882_889del (p.Ile295fs)	LOC127814297, POU4F3 (I295fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic

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Items: 55