5459[geneid] - ClinVar - NCBI

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	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 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 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)	Autosomal dominant nonsyndromic hearing loss 15 +1 more	GConflicting classifications of pathogenicity
Select item 2468164	NM_002700.3(POU4F3):c.26C>T (p.Pro9Leu)	LOC127814297, POU4F3 (P9L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2974951	NM_002700.3(POU4F3):c.31G>A (p.Gly11Ser)	LOC127814297, POU4F3 (R955Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508552	NM_002700.3(POU4F3):c.35T>C (p.Met12Thr)	LOC127814297, POU4F3 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2790133	NM_002700.3(POU4F3):c.39C>G (p.His13Gln)	LOC127814297, POU4F3 (P958A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2293389	NM_002700.3(POU4F3):c.54A>C (p.Glu18Asp)	LOC127814297, POU4F3 (E18D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2193110	NM_002700.3(POU4F3):c.70C>T (p.Leu24=)	LOC127814297, POU4F3 (S968F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2841950	NM_002700.3(POU4F3):c.78T>A (p.Ser26=)	LOC127814297, POU4F3 (W971R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 provided +2 more	GBenign
Select item 667156	NM_002700.3(POU4F3):c.96C>A (p.Arg32=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3216957	NM_002700.3(POU4F3):c.100G>C (p.Val34Leu)	LOC127814297, POU4F3 (V34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 164978	NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg)	LOC127814297, POU4F3 (C35R)	Single nucleotide variant (missense variant)	not provided +1 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 444664	NM_002700.3(POU4F3):c.118C>T (p.Gln40Ter)	LOC127814297, POU4F3 (Q40*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2973160	NM_002700.3(POU4F3):c.121-18G>A	LOC127814297, POU4F3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2622066	NM_002700.3(POU4F3):c.146T>G (p.Phe49Cys)	LOC127814297, POU4F3 (F49C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550506	NM_002700.3(POU4F3):c.161T>A (p.Leu54Gln)	LOC127814297, POU4F3 (L54Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216958	NM_002700.3(POU4F3):c.166C>A (p.Arg56Ser)	LOC127814297, POU4F3 (R56S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 2030117	NM_002700.3(POU4F3):c.171C>T (p.Ala57=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 618334	NM_002700.3(POU4F3):c.171C>G (p.Ala57=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +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 973500	NM_002700.3(POU4F3):c.184del (p.Ala62fs)	LOC127814297, POU4F3 (A62fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
Select item 1483480	NM_002700.3(POU4F3):c.184G>T (p.Ala62Ser)	LOC127814297, POU4F3 (A62S)	Single nucleotide variant (missense variant)	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 2842637	NM_002700.3(POU4F3):c.205G>T (p.Gly69Cys)	LOC127814297, POU4F3 (G69C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2635799	NM_002700.3(POU4F3):c.205G>A (p.Gly69Ser)	LOC127814297, POU4F3 (G69S)	Single nucleotide variant (3 prime UTR variant +1 more)	POU4F3-related disorder	GUncertain significance
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)	not provided +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 1366764	NM_002700.3(POU4F3):c.246_645delinsGG (p.Met83fs)	LOC127814297, POU4F3 (M83fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2869409	NM_002700.3(POU4F3):c.249G>A (p.Met83Ile)	LOC127814297, POU4F3 (M83I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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	GUncertain significance
Select item 667307	NM_002700.3(POU4F3):c.256G>C (p.Val86Leu)	LOC127814297, POU4F3 (V86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2902518	NM_002700.3(POU4F3):c.281C>T (p.Thr94Ile)	LOC127814297, POU4F3 (T94I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 667155	NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)	LOC127814297, POU4F3 (H99Y)	Single nucleotide variant (missense variant)	not provided +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 904354	NM_002700.3(POU4F3):c.309C>T (p.Leu103=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +1 more	GConflicting classifications of pathogenicity
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 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 726856	NM_002700.3(POU4F3):c.330C>T (p.Ala110=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	POU4F3-related disorder +1 more	GBenign/Likely benign
Select item 2303862	NM_002700.3(POU4F3):c.341G>A (p.Gly114Asp)	LOC127814297, POU4F3 (G114D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216959	NM_002700.3(POU4F3):c.353A>G (p.Asp118Gly)	LOC127814297, POU4F3 (D118G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 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 562074	NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu)	LOC127814297, POU4F3 (P125L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 178630	NM_002700.3(POU4F3):c.378G>A (p.Thr126=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 15 +2 more	GBenign/Likely benign
Select item 164980	NM_002700.3(POU4F3):c.378G>T (p.Thr126=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 667014	NM_002700.3(POU4F3):c.384_387dup (p.Ser130fs)	LOC127814297, POU4F3 (S130fs)	Microsatellite (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3216960	NM_002700.3(POU4F3):c.400G>A (p.Ala134Thr)	LOC127814297, POU4F3 (A134T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Autosomal dominant nonsyndromic hearing loss 15 +2 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 1948575	NM_002700.3(POU4F3):c.406G>C (p.Glu136Gln)	LOC127814297, POU4F3 (E136Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2869928	NM_002700.3(POU4F3):c.414_418del (p.Val139fs)	LOC127814297, POU4F3 (V139fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 667153	NM_002700.3(POU4F3):c.421C>A (p.Pro141Thr)	LOC127814297, POU4F3 (P141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2282755	NM_002700.3(POU4F3):c.439C>T (p.His147Tyr)	LOC127814297, POU4F3 (H147Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 2966340	NM_002700.3(POU4F3):c.445C>T (p.Leu149=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2987042	NM_002700.3(POU4F3):c.459C>T (p.Gly153=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2709079	NM_002700.3(POU4F3):c.460C>T (p.His154Tyr)	LOC127814297, POU4F3 (H154Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 2889465	NM_002700.3(POU4F3):c.489C>T (p.His163=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 178526	NM_002700.3(POU4F3):c.490C>T (p.Pro164Ser)	LOC127814297, POU4F3 (P164S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2734793	NM_002700.3(POU4F3):c.491C>G (p.Pro164Arg)	LOC127814297, POU4F3 (P164R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 164982	NM_002700.3(POU4F3):c.491C>T (p.Pro164Leu)	LOC127814297, POU4F3 (P164L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2572022	NM_002700.3(POU4F3):c.499G>A (p.Val167Met)	LOC127814297, POU4F3 (V167M)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 15	Gnot provided
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 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 1523546	NM_002700.3(POU4F3):c.509A>G (p.His170Arg)	LOC127814297, POU4F3 (H170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945304	NM_002700.3(POU4F3):c.513C>T (p.Ser171=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2361770	NM_002700.3(POU4F3):c.514G>T (p.Ala172Ser)	LOC127814297, POU4F3 (A172S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2189146	NM_002700.3(POU4F3):c.525A>G (p.Ala175=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1386873	NM_002700.3(POU4F3):c.537C>A (p.Asp179Glu)	LOC127814297, POU4F3 (D179E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315464	NM_002700.3(POU4F3):c.538G>T (p.Val180Leu)	LOC127814297, POU4F3 (V180L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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