"Illumina Laboratory Services, Illumina"[submitter] AND "LOC127814297" - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 44583	NM_002700.3(POU4F3):c.90C>T (p.Ala30=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 164983	NM_002700.3(POU4F3):c.663C>A (p.Gly221=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 351385	NM_002700.3(POU4F3):c.798A>G (p.Pro266=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GConflicting classifications of pathogenicity
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 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

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Items: 24