"GeneDx"[submitter] AND "LOC127814297"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1179770	NC_000005.10:g.146338727C>A	LOC127814297, POU4F3	Single nucleotide variant	not provided	GBenign
Select item 1215012	NM_002700.3(POU4F3):c.-258G>A	LOC127814297, POU4F3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3368113	NM_002700.3(POU4F3):c.36_37delinsAA (p.Met12_His13delinsIleAsn)	LOC127814297, POU4F3 (A957K)	Indel (missense variant)	not provided	GUncertain significance
Select item 2193110	NM_002700.3(POU4F3):c.70C>T (p.Leu24=)	LOC127814297, POU4F3 (S968F)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1693089	NM_002700.3(POU4F3):c.71T>G (p.Leu24Arg)	LOC127814297, POU4F3 (L24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662906	NM_002700.3(POU4F3):c.85G>A (p.Glu29Lys)	LOC127814297, POU4F3 (E29K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1513544	NM_002700.3(POU4F3):c.98G>A (p.Arg33Gln)	LOC127814297, POU4F3 (R33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 164978	NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg)	LOC127814297, POU4F3 (C35R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3373742	NM_002700.3(POU4F3):c.112G>C (p.Ala38Pro)	LOC127814297, POU4F3 (A38P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505344	NM_002700.3(POU4F3):c.120+8G>A	LOC127814297, POU4F3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 3371167	NM_002700.3(POU4F3):c.123G>T (p.Leu41=)	LOC127814297, POU4F3 (A986S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343555	NM_002700.3(POU4F3):c.168C>T (p.Arg56=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1706322	NM_002700.3(POU4F3):c.170C>G (p.Ala57Gly)	LOC127814297, POU4F3 (A57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371271	NM_002700.3(POU4F3):c.179T>C (p.Leu60Pro)	LOC127814297, POU4F3 (L60P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 179962	NM_002700.3(POU4F3):c.192T>C (p.Asp64=)	POU4F3, LOC127814297	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1220429	NM_002700.3(POU4F3):c.195C>T (p.Ile65=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1314251	NM_002700.3(POU4F3):c.207C>T (p.Gly69=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	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 741239	NM_002700.3(POU4F3):c.228C>T (p.Pro76=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 504671	NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly)	LOC127814297, POU4F3 (D77G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3309047	NM_002700.3(POU4F3):c.255C>A (p.Ser85Arg)	LOC127814297, POU4F3 (S85R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	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 514695	NM_002700.3(POU4F3):c.297C>T (p.His99=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1703900	NM_002700.3(POU4F3):c.298C>G (p.Pro100Ala)	LOC127814297, POU4F3 (P100A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197133	NM_002700.3(POU4F3):c.357G>A (p.Leu119=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 904355	NM_002700.3(POU4F3):c.405G>A (p.Pro135=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2323944	NM_002700.3(POU4F3):c.406G>A (p.Glu136Lys)	LOC127814297, POU4F3 (E136K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3365355	NM_002700.3(POU4F3):c.424G>A (p.Ala142Thr)	LOC127814297, POU4F3 (A142T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 681146	NM_002700.3(POU4F3):c.441C>T (p.His147=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 351381	NM_002700.3(POU4F3):c.442C>T (p.His148Tyr)	LOC127814297, POU4F3 (H148Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GUncertain significance
Select item 2501581	NM_002700.3(POU4F3):c.462C>G (p.His154Gln)	LOC127814297, POU4F3 (H154Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 372853	NM_002700.3(POU4F3):c.502del (p.Ala168fs)	LOC127814297, POU4F3 (A168fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15 +1 more	GPathogenic/Likely pathogenic
Select item 1314825	NM_002700.3(POU4F3):c.517A>T (p.Met173Leu)	LOC127814297, POU4F3 (M173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676045	NM_002700.3(POU4F3):c.526T>G (p.Cys176Gly)	LOC127814297, POU4F3 (C176G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1315464	NM_002700.3(POU4F3):c.538G>T (p.Val180Leu)	LOC127814297, POU4F3 (V180L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695580	NM_002700.3(POU4F3):c.590G>C (p.Arg197Pro)	LOC127814297, POU4F3 (R197P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546189	NM_002700.3(POU4F3):c.593G>A (p.Arg198His)	LOC127814297, POU4F3 (R198H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578175	NM_002700.3(POU4F3):c.622G>C (p.Val208Leu)	LOC127814297, POU4F3 (V208L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 668207	NM_002700.3(POU4F3):c.645C>G (p.Leu215=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 164983	NM_002700.3(POU4F3):c.663C>A (p.Gly221=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1313178	NM_002700.3(POU4F3):c.680C>T (p.Thr227Ile)	LOC127814297, POU4F3 (T227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546190	NM_002700.3(POU4F3):c.686G>T (p.Cys229Phe)	LOC127814297, POU4F3 (C229F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308142	NM_002700.3(POU4F3):c.689G>C (p.Arg230Thr)	LOC127814297, POU4F3 (R230T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313437	NM_002700.3(POU4F3):c.694G>C (p.Glu232Gln)	LOC127814297, POU4F3 (E232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303201	NM_002700.3(POU4F3):c.694G>A (p.Glu232Lys)	LOC127814297, POU4F3 (E232K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507263	NM_002700.3(POU4F3):c.703_704del (p.Thr235fs)	LOC127814297, POU4F3 (T235fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1254529	NM_002700.3(POU4F3):c.702C>T (p.Leu234=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2430539	NM_002700.3(POU4F3):c.716A>G (p.Asn239Ser)	LOC127814297, POU4F3 (N239S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1307287	NM_002700.3(POU4F3):c.730C>G (p.Leu244Val)	LOC127814297, POU4F3 (L244V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703985	NM_002700.3(POU4F3):c.731T>G (p.Leu244Arg)	LOC127814297, POU4F3 (L244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373611	NM_002700.3(POU4F3):c.763G>T (p.Ala255Ser)	LOC127814297, POU4F3 (A255S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 227856	NM_002700.3(POU4F3):c.792C>T (p.Ser264=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3343289	NM_002700.3(POU4F3):c.822_833del (p.Lys275_Arg278del)	LOC127814297, POU4F3	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 44579	NM_002700.3(POU4F3):c.837G>T (p.Thr279=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 3375747	NM_002700.3(POU4F3):c.904G>T (p.Glu302Ter)	LOC127814297, POU4F3 (E302*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3252584	NM_002700.3(POU4F3):c.948C>A (p.Asn316Lys)	LOC127814297, POU4F3 (N316K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 351386	NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)	LOC127814297, POU4F3 (N316K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GConflicting classifications of pathogenicity
Select item 2574954	NM_002700.3(POU4F3):c.982A>G (p.Lys328Glu)	LOC127814297, POU4F3 (K328E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1283952	NM_002700.3(POU4F3):c.*230G>A	LOC127814297, LOC129389389 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 64