ClinVar (all) for Orgtrack (Select 506744) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1703051	NM_194248.3(OTOF):c.2215-1G>C	OTOF (Q48H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 1334161	NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
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 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 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 802700	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 681822	NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome	GLikely benign 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 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 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 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 556881	NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)	MYO7A (R666Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 556334	NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	USH2A (L4406P)	Single nucleotide variant (missense variant)	Usher syndrome	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 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 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 549981	NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)	USH2A (C620F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic 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 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 506273	NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)	USH2A (Y3747*)	Single nucleotide variant (nonsense)	Usher syndrome	GPathogenic FDA Recognized database
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	GPathogenic 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 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 444219	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23 (E956K)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GPathogenic FDA Recognized database
Select item 438620	NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	GJB2 (M195T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 438177	NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)	MYO7A (N1182K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 438172	NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	MYO7A (S617P +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 430229	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	SLC26A4 (Q421R)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance 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 429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A (A4740D)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 423766	NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)	MYO15A (P371T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 422345	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)	CDH23 (D2695N +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 418533	NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	USH2A (C694Y)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 379889	NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	GJB2 (T8M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 375463	NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)	CDH23 (D160N)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 371781	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	GJB2 (M1T)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 287165	NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)	TBCEL-TECTA, TECTA (G1335E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 282144	NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)	USH2A (A5165G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 281981	NM_004086.3(COCH):c.629+5C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 265979	NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)	USH2A, USH2A-AS2 (V1839E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 256155	NM_000441.2(SLC26A4):c.1708-18T>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 236537	NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	USH2A (R3905C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 229304	NM_005422.4(TECTA):c.487-7C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 229012	NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)	MYO7A (R1164Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 228500	NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)	CDH23 (N2289S +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 228491	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23, CDH23-AS1 (D127G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 228484	NM_022124.6(CDH23):c.1515-12G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 228282	NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)	MYO7A (K2021R +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1	GLikely pathogenic FDA Recognized database
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4, SLC26A4-AS1 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 227469	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)	KCNQ4	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 227258	NM_004086.3(COCH):c.429A>G (p.Pro143=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 226780	NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser)	MYO15A (R746S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 226529	NM_004086.3(COCH):c.841G>A (p.Asp281Asn)	COCH, LOC100506071 (D281N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 225375	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2 (M195V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 224753	NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	USH2A (P2149Q)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 224749	NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	MYO7A (V1372G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 208366	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)	KCNQ4 (S269del)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 198366	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	USH2A (A4807T)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 197510	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 197422	NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)	CDH23 (V1711I)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 196099	NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)	MYO7A (S1176N +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 189148	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	SLC26A4 (I124fs)	Duplication (frameshift variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A, USH2A-AS2 (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 179542	NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	USH2A (G2726E)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 179479	NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)	MYO7A (R1168Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 178957	NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)	MYO6 (R80*)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 178937	NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	USH2A (H4603P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 178685	NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	C10orf105, CDH23 (R1334W)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 178667	NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)	MYO7A (Y403C +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 178638	NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu)	TBCEL-TECTA, TECTA (P479L +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 178539	NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 178538	NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)	TBCEL-TECTA, TECTA (R1033W +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 178532	NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)	TBCEL-TECTA, TECTA (Q234R +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 178503	NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)	OTOF (R1792C +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 178283	NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)	MYO7A (S1276L +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 177859	NM_206933.3(USH2A):c.12295-?_14133+?del	USH2A	Deletion	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 177732	NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	MYO7A (A826T +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 166499	NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)	USH2A, USH2A-AS2 (K1680R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166488	NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	USH2A (P2078R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166479	NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	USH2A (V2244M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database

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