ClinVar for Gene (Select 5459) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 189

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216962	NM_002700.3(POU4F3):c.970A>G (p.Asn324Asp)	LOC127814297, POU4F3 (N324D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3067778	NM_002700.3(POU4F3):c.951G>C (p.Val317=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
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 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 2976879	NM_002700.3(POU4F3):c.783G>A (p.Glu261=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2973160	NM_002700.3(POU4F3):c.121-18G>A	LOC127814297, POU4F3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2954805	NM_002700.3(POU4F3):c.919A>G (p.Ile307Val)	LOC127814297, POU4F3 (I307V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 2878820	NM_002700.3(POU4F3):c.655G>C (p.Gly219Arg)	LOC127814297, POU4F3 (G219R)	Single nucleotide variant (missense 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 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 2857410	NM_002700.3(POU4F3):c.676A>G (p.Ser226Gly)	LOC127814297, POU4F3 (S226G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2841950	NM_002700.3(POU4F3):c.78T>A (p.Ser26=)	LOC127814297, POU4F3 (W971R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2836454	NM_002700.3(POU4F3):c.674A>G (p.Gln225Arg)	LOC127814297, POU4F3 (Q225R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 2745900	NM_002700.3(POU4F3):c.650T>A (p.Ile217Asn)	LOC127814297, POU4F3 (I217N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 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 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 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 2633013	NM_002700.3(POU4F3):c.607G>T (p.Val203Leu)	LOC127814297, POU4F3 (V203L)	Single nucleotide variant (3 prime UTR variant +1 more)	POU4F3-related disorder	GUncertain significance
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 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 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 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 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 2529283	NM_002700.3(POU4F3):c.653C>G (p.Pro218Arg)	LOC127814297, POU4F3 (P218R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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 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 2501581	NM_002700.3(POU4F3):c.462C>G (p.His154Gln)	POU4F3, LOC127814297 (H154Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2475939	NM_002700.3(POU4F3):c.541G>C (p.Glu181Gln)	LOC127814297, POU4F3 (E181Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2430539	NM_002700.3(POU4F3):c.716A>G (p.Asn239Ser)	LOC127814297, POU4F3 (N239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424524	NC_000005.9:g.(?_145718676)_(145718815_?)del	POU4F3	Deletion	not provided	GPathogenic
Select item 2361770	NM_002700.3(POU4F3):c.514G>T (p.Ala172Ser)	LOC127814297, POU4F3 (A172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323944	NM_002700.3(POU4F3):c.406G>A (p.Glu136Lys)	LOC127814297, POU4F3 (E136K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303862	NM_002700.3(POU4F3):c.341G>A (p.Gly114Asp)	LOC127814297, POU4F3 (G114D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2282755	NM_002700.3(POU4F3):c.439C>T (p.His147Tyr)	LOC127814297, POU4F3 (H147Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241384	NM_002700.3(POU4F3):c.945G>T (p.Lys315Asn)	LOC127814297, POU4F3 (K315N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GLikely benign
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 2139669	NM_002700.3(POU4F3):c.576G>A (p.Glu192=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2118209	NM_002700.3(POU4F3):c.945G>C (p.Lys315Asn)	LOC127814297, POU4F3 (K315N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086843	NM_002700.3(POU4F3):c.546A>C (p.Ser182=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2060858	NM_002700.3(POU4F3):c.564A>G (p.Glu188=)	LOC127814297, POU4F3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 2024225	NM_002700.3(POU4F3):c.863C>T (p.Ser288Leu)	LOC127814297, POU4F3 (S288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948575	NM_002700.3(POU4F3):c.406G>C (p.Glu136Gln)	LOC127814297, POU4F3 (E136Q)	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 (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915815	NM_002700.3(POU4F3):c.589C>A (p.Arg197=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1706322	NM_002700.3(POU4F3):c.170C>G (p.Ala57Gly)	LOC127814297, POU4F3 (A57G)	Single nucleotide variant (missense variant)	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 1703985	NM_002700.3(POU4F3):c.731T>G (p.Leu244Arg)	LOC127814297, POU4F3 (L244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1699941	NM_002700.3(POU4F3):c.37del (p.His13fs)	LOC127814297, POU4F3 (H13fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 15	GPathogenic
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 1693089	NM_002700.3(POU4F3):c.71T>G (p.Leu24Arg)	LOC127814297, POU4F3 (L24R)	Single nucleotide variant (missense variant)	not provided	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 1585151	NM_002700.3(POU4F3):c.801G>A (p.Glu267=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1523546	NM_002700.3(POU4F3):c.509A>G (p.His170Arg)	LOC127814297, POU4F3 (H170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516365	NM_002700.3(POU4F3):c.547G>C (p.Asp183His)	LOC127814297, POU4F3 (D183H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1508552	NM_002700.3(POU4F3):c.35T>C (p.Met12Thr)	LOC127814297, POU4F3 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1421455	NM_002700.3(POU4F3):c.757G>A (p.Glu253Lys)	LOC127814297, POU4F3 (E253K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396196	NM_002700.3(POU4F3):c.779G>A (p.Arg260Gln)	LOC127814297, POU4F3 (R260Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1366764	NM_002700.3(POU4F3):c.246_645delinsGG (p.Met83fs)	LOC127814297, POU4F3 (M83fs)	Indel (frameshift variant)	not provided	GPathogenic
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 1315464	NM_002700.3(POU4F3):c.538G>T (p.Val180Leu)	LOC127814297, POU4F3 (V180L)	Single nucleotide variant (missense variant)	not provided	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 1314251	NM_002700.3(POU4F3):c.207C>T (p.Gly69=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous 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 1313178	NM_002700.3(POU4F3):c.680C>T (p.Thr227Ile)	LOC127814297, POU4F3 (T227I)	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 1307287	NM_002700.3(POU4F3):c.730C>G (p.Leu244Val)	LOC127814297, POU4F3 (L244V)	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 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 1283952	NM_002700.3(POU4F3):c.*230G>A	LOC127814297, LOC129389389 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1220429	NM_002700.3(POU4F3):c.195C>T (p.Ile65=)	LOC127814297, POU4F3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1215012	NM_002700.3(POU4F3):c.-258G>A	LOC127814297, POU4F3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

<< First< Prev

Page of 2