ClinVar for Gene (Select 5456) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216940	NM_000307.5(POU3F4):c.17C>G (p.Ser6Trp)	POU3F4 (S6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062496	GRCh37/hg19 Xq21.1(chrX:82502001-83758394)	CYLC1, HDX +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3061537	NM_000307.5(POU3F4):c.522A>G (p.Glu174=)	POU3F4	Single nucleotide variant (synonymous variant)	POU3F4-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3021428	NM_000307.5(POU3F4):c.289C>G (p.Arg97Gly)	POU3F4 (R97G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3019862	NM_000307.5(POU3F4):c.374C>A (p.Thr125Lys)	POU3F4 (T125K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898404	NM_000307.5(POU3F4):c.750C>G (p.Pro250=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876977	NM_000307.5(POU3F4):c.306C>T (p.Ala102=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844085	NM_000307.5(POU3F4):c.514C>G (p.His172Asp)	POU3F4 (H172D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2795598	NM_000307.5(POU3F4):c.509C>G (p.Pro170Arg)	POU3F4 (P170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787772	NM_000307.5(POU3F4):c.78G>A (p.Gln26=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771380	NM_000307.5(POU3F4):c.391del (p.Leu131fs)	POU3F4 (L131fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2737264	NM_000307.5(POU3F4):c.907C>T (p.Pro303Ser)	POU3F4 (P303S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715369	NM_000307.5(POU3F4):c.119G>C (p.Ser40Thr)	POU3F4 (S40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692317	NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)	POU3F4 (I285T)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2682205	NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)	POU3F4 (P120Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2660990	NM_000307.5(POU3F4):c.468C>T (p.Ala156=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660989	NM_000307.5(POU3F4):c.370A>G (p.Ile124Val)	POU3F4 (I124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627954	NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)	POU3F4 (R282Q)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 2582793	NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)	POU3F4 (R329*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2582792	NM_000307.5(POU3F4):c.80dup (p.Ser29fs)	POU3F4 (S29fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2579451	NM_000307.5(POU3F4):c.1054G>A (p.Val352Met)	POU3F4 (V352M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572180	NM_000307.5(POU3F4):c.119dup (p.Ser40fs)	POU3F4 (S40fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2531491	NM_000307.5(POU3F4):c.280A>G (p.Ile94Val)	POU3F4 (I94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505308	NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)	POU3F4 (L256P)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2505307	NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)	POU3F4 (I308N)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2505306	NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)	POU3F4 (R204fs)	Microsatellite (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2445677	NM_000307.5(POU3F4):c.300dup (p.Val101fs)	POU3F4 (V101fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2422849	NC_000023.10:g.(?_82763333)_(82764418_?)del	POU3F4	Deletion	not provided	GPathogenic
Select item 2241294	NM_000307.5(POU3F4):c.301G>A (p.Val101Ile)	POU3F4 (V101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2131257	NM_000307.5(POU3F4):c.745A>G (p.Lys249Glu)	POU3F4 (K249E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098762	NM_000307.5(POU3F4):c.59C>T (p.Ala20Val)	POU3F4 (A20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091520	NM_000307.5(POU3F4):c.182T>C (p.Leu61Pro)	POU3F4 (L61P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089058	NM_000307.5(POU3F4):c.99C>T (p.Asn33=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029679	NM_000307.5(POU3F4):c.844C>G (p.Arg282Gly)	POU3F4 (R282G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005526	NM_000307.5(POU3F4):c.509del (p.Pro170fs)	POU3F4 (P170fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879006	NM_000307.5(POU3F4):c.686A>G (p.Gln229Arg)	POU3F4 (Q229R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1803528	NM_000307.5(POU3F4):c.490C>T (p.Pro164Ser)	POU3F4 (P164S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799532	NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)	POU3F4 (Q306*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1799531	NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)	POU3F4 (N328S)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1701827	NM_000307.5(POU3F4):c.220del (p.Ser74fs)	POU3F4 (S74fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided
Select item 1701826	NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)	POU3F4 (C327*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided
Select item 1699084	NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)	POU3F4 (A305V)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 1687028	NM_000307.5(POU3F4):c.340dup (p.Trp114fs)	POU3F4 (W114fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1628834	NM_000307.5(POU3F4):c.708G>A (p.Glu236=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1603373	NM_000307.5(POU3F4):c.15C>T (p.Ala5=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557849	NM_000307.5(POU3F4):c.710C>G (p.Ala237Gly)	POU3F4 (A237G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1545444	NM_000307.5(POU3F4):c.906G>A (p.Lys302=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526822	GRCh37/hg19 Xq21.1-21.2(chrX:78104966-86189374)	APOOL, BRWD3 +16 more	Copy number loss	not specified	GPathogenic
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	HMGN5, ITM2A +49 more	Copy number gain	not specified	GUncertain significance
Select item 1428284	NM_000307.5(POU3F4):c.305C>G (p.Ala102Gly)	POU3F4 (A102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418463	NM_000307.5(POU3F4):c.172del (p.Trp57_Val58insTer)	POU3F4	Deletion (nonsense)	not provided	GPathogenic
Select item 1346209	NM_000307.5(POU3F4):c.250G>C (p.Gly84Arg)	POU3F4 (G84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1341135	GRCh37/hg19 Xq21.1-21.31(chrX:78558916-86314970)x2	APOOL, BRWD3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1333162	NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)	POU3F4	Variation (no sequence alteration)	X-linked mixed hearing loss with perilymphatic gusher	GBenign
Select item 1312397	NM_000307.5(POU3F4):c.874G>A (p.Val292Ile)	POU3F4 (V292I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304653	NM_000307.5(POU3F4):c.836G>A (p.Arg279His)	POU3F4 (R279H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299608	NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)	POU3F4 (G148R)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 1297060	NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)	POU3F4 (R329G)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 1291836	NC_000023.11:g.83508142G>T	POU3F4	Single nucleotide variant	not provided	GBenign
Select item 1230950	NM_000307.5(POU3F4):c.418A>C (p.Thr140Pro)	POU3F4 (T140P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1208393	NM_000307.5(POU3F4):c.810C>T (p.Asp270=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200707	NC_000023.11:g.83508021dup	POU3F4	Duplication	not provided	GLikely benign
Select item 1185660	NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)	POU3F4 (R204fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1185618	NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)	POU3F4 (Y223*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1185600	NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)	POU3F4 (S22fs)	Microsatellite (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1183856	NM_000307.5(POU3F4):c.618C>A (p.Ile206=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180654	NM_000307.5(POU3F4):c.929C>A (p.Ser310Ter)	POU3F4 (S310*)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1120056	NM_000307.5(POU3F4):c.249C>A (p.Pro83=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 988357	NM_000307.5(POU3F4):c.704del (p.Phe235fs)	POU3F4 (F235fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988337	NM_000307.5(POU3F4):c.530C>A (p.Ser177Ter)	POU3F4 (S177*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988287	NM_000307.5(POU3F4):c.666_667del (p.Tyr223fs)	POU3F4 (Y223fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 929920	NM_000307.5(POU3F4):c.59C>A (p.Ala20Glu)	POU3F4 (A20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929884	NM_000307.5(POU3F4):c.285T>C (p.His95=)	POU3F4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 914803	NM_000307.5(POU3F4):c.*297T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 914300	NM_000307.5(POU3F4):c.*22C>G	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher +1 more	GBenign/Likely benign
Select item 913163	NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913162	NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	POU3F4 (S177L)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913161	NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)	POU3F4 (L131F)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 833505	NC_000023.10:g.(?_82763333)_(86890775_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 833457	NC_000023.10:g.(?_82763333)_(86924394_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 811912	NM_000307.5(POU3F4):c.24C>T (p.Pro8=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely benign

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