ClinVar for MedGen (Select 1830101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075980	NM_001195263.2(PDZD7):c.2211del (p.Gln737fs)	PDZD7 (Q737fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075965	NM_001378609.3(OTOGL):c.4483_4484del (p.Gln1495fs)	OTOGL (Q1450fs +1 more)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075938	NM_005422.4(TECTA):c.12dup (p.Ser5fs)	TBCEL-TECTA, TECTA (S324fs +1 more)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075934	NM_002906.4(RDX):c.1180C>T (p.Arg394Ter)	RDX (R258* +2 more)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075927	NM_017433.5(MYO3A):c.2421dup (p.Phe808fs)	MYO3A (F808fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075926	NM_017433.5(MYO3A):c.192del (p.Glu65fs)	MYO3A (E65fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075921	NM_001199799.2(ILDR1):c.912del (p.Asp305fs)	ILDR1 (D216fs +2 more)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075920	NM_001199799.2(ILDR1):c.377del (p.Asn126fs)	ILDR1 (N126fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3068632	NM_000260.4(MYO7A):c.5169-6C>A	MYO7A	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 3068575	NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)	LHFPL5 (P47T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 2691708	NM_194248.3(OTOF):c.4228-1G>T	OTOF	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2691301	NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)	LOXHD1 (G1207* +1 more)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 2627140	NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del	STRC	Deletion	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2582670	NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)	STRC (R344*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 2573346	NC_000015.9:g.(?_43891760)_(43897598_43900060)del	STRC	Deletion	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2501287	NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del	LOXHD1	Deletion	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2501018	NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)	OTOF (W1122* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 2445909	NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del	OTOF	Deletion	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2445877	NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)	SYNE4 (L105* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2429321	NM_194248.3(OTOF):c.153_159del (p.Val52fs)	OTOF (V52fs)	Microsatellite (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 2429109	NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)	OTOF (R1583H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 2070085	NM_004004.6(GJB2):c.3G>A (p.Met1Ile)	GJB2 (M1I)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 1980736	NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)	LOXHD1 (A291fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 1875098	NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)	LOXHD1 (G881R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1799567	NM_004004.6(GJB2):c.449del (p.Phe150fs)	GJB2 (F150fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 1723402	NM_001039876.3(SYNE4):c.377del (p.Gly126fs)	SYNE4 (G126fs)	Deletion (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1723247	NM_001384474.1(LOXHD1):c.1519-2A>T	LOXHD1	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1397540	NM_194248.3(OTOF):c.76C>T (p.Arg26Ter)	OTOF (R26*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1328187	NM_138691.3(TMC1):c.1334G>A (p.Arg445His)	TMC1 (R445H)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1326933	NM_004004.6(GJB2):c.382A>G (p.Ile128Val)	GJB2 (I128V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185804	NM_004004.6(GJB2):c.104T>G (p.Ile35Ser)	GJB2 (I35S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1185595	NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser)	COL4A5 (P587S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 1185594	NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser)	COL4A5 (P395S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +1 more	GUncertain significance
Select item 1185592	NM_001256317.3(TMPRSS3):c.242C>G (p.Ser81Ter)	TMPRSS3 (S81*)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 1185590	NM_015340.4(LARS2):c.1481dup (p.Leu495fs)	LARS2, LARS2-AS1 (L495fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss +1 more	GPathogenic
Select item 1185589	NM_004100.5(EYA4):c.580+2T>C	EYA4	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 1185588	NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu)	MYO6 (F642L +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 1185098	NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)	TMC1 (I266T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1120121	NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter)	OTOG (Q1836* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1073929	NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter)	MYO7A (Q234* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +1 more	GPathogenic
Select item 1071458	NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)	LOXHD1 (E972fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069745	NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)	LOXHD1 (E1493* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +1 more	GPathogenic
Select item 995923	NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	MITF (R231* +9 more)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 8 +4 more	GPathogenic
Select item 978790	Single allele	CRYL1, GJB6	Deletion	Nonsyndromic genetic hearing loss	GPathogenic
Select item 978789	Single allele	CRYL1, GJB6	Deletion	Nonsyndromic genetic hearing loss	GPathogenic
Select item 978418	NM_004004.6(GJB2):c.569T>A (p.Val190Asp)	GJB2 (V190D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 978417	NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)	GJB2 (L10P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 975155	NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)	GJB2 (A78S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 975154	NM_004004.6(GJB2):c.326G>T (p.Gly109Val)	GJB2 (G109V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 975153	NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)	GJB2 (C211Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 930134	NM_004999.4(MYO6):c.78del (p.Asp27fs)	MYO6 (D27fs)	Deletion (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 930033	NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter)	MYO15A (Q3349*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 929942	NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)	OTOF (E643*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 897955	NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)	OTOF (A1035V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 869102	NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys)	CLDN9 (E159K)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 866837	NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)	MYO7A (A1277P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 804341	NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)	CEACAM16, CEACAM16-AS1 (A375fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 802700	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 667141	NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val)	OTOF (G1364V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 666995	NM_016239.4(MYO15A):c.9517+2T>C	MYO15A	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 644162	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2 (V193fs)	Deletion (frameshift variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GPathogenic/Likely pathogenic
Select item 634821	NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)	OTOF (F242del +2 more)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 633242	NM_004004.6(GJB2):c.299A>T (p.His100Leu)	GJB2 (H100L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GLikely pathogenic
Select item 632271	NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)	MYO15A (V1400M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 631856	NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)	OTOF (W50*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 631697	NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	GJB2 (T86R)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 623347	NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)	MYO15A (Y393fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 617675	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)	MYO3A (L697W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 590799	NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	GJB2 (W172C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 585327	NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)	GJB2 (C218Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 585322	NM_004004.6(GJB2):c.677T>A (p.Val226Asp)	GJB2 (V226D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 555720	NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)	GJB2 (P225L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 555138	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	MYO7A (R395C +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 553568	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2 (A78fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic/Likely pathogenic
Select item 551915	NM_004004.6(GJB2):c.2T>G (p.Met1Arg)	GJB2 (M1R)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 550961	NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	GJB2 (V178A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550716	NM_004004.6(GJB2):c.1A>T (p.Met1Leu)	GJB2 (M1L)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 523937	NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	MYO6 (Q918fs +1 more)	Duplication (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 517648	NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln)	MYO15A (R2298Q)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 517507	NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	LOXHD1 (G2118E +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 517357	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)	MYO7A (R606H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 505330	NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)	LOXHD1 (E1050*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 505302	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)	KCNQ4 (W275C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 505185	NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)	MYO15A (Y332*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 504630	NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)	MYO15A (E1499D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 504629	NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser)	MYO15A (G528S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 500061	NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	MYO15A (Y380fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 498538	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)	TBCEL-TECTA, TECTA (W1362* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 449526	NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)	MYO15A (Y1392*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 449490	NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	GJB2 (V37A)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 449488	NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	GJB2 (M163T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 447450	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	GJB2 (V226G)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 446446	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	CDH23 (R2029W)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 429984	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	GJB2 (K188R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 424854	NM_004004.6(GJB2):c.487A>C (p.Met163Leu)	GJB2 (M163L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 424817	NM_153700.2(STRC):c.[4057C>T];[4171C>G]			Autosomal dominant nonsyndromic hearing loss 16	GPathogenic
Select item 424815	NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]			Nonsyndromic genetic hearing loss	GPathogenic
Select item 424809	NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]			Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 424808	NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]			Autosomal recessive nonsyndromic hearing loss 77	GPathogenic

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