CN169374[trait identifier] AND "ClinGen Hearing Loss Variant Curation - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 48468	NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)	USH2A (S5188G)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48459	NM_206933.4(USH2A):c.15297+3A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GBenign 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 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 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 48417	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	USH2A (P4466S)	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 48409	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	USH2A (N4292D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic FDA Recognized database
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48597	NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	USH2A (A2774T)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign 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 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign 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
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 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 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A-AS2, USH2A (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 48521	NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)	USH2A (L1572F)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign 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 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 48253	NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	LOC112840921, OTOF (E1700Q +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 48238	NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)	OTOF (D1528N +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 48235	NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)	OTOF (D1488V +2 more)	Single nucleotide variant (missense variant)	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 21826	NM_194248.3(OTOF):c.1723G>A (p.Val575Met)	OTOF (V575M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 164870	NM_194248.3(OTOF):c.1580-6C>T	OTOF	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign 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 45163	NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)	MYO6 (E159K)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45131	NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)	MYO6 (A342V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign 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 164639	NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)	MYO6 (R946C +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance 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 43531	NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)	SLC26A4 (T67S)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 43555	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	SLC26A4 (L117F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43558	NM_000441.2(SLC26A4):c.416-7T>C	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43560	NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)	SLC26A4 (A189S)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43565	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	SLC26A4 (L236V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43492	NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	SLC26A4 (F354S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 43491	NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)	SLC26A4 (A357T)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43507	NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	SLC26A4 (I455F)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43517	NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome	GLikely benign 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 43521	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	SLC26A4 (V570I)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43527	NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)	SLC26A4 (S642P)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43528	NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	SLC26A4 (I655V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43546	NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)	SLC26A4 (T764M)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 45941	NM_022124.6(CDH23):c.429+4G>A	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign 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 45891	NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	CDH23 (H755Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 4927	NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	C10orf105, CDH23 (T1209A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GBenign 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 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 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 4926	NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)	CDH23 (R3189W +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 162956	NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)	CDH23 (R3189Q +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 46076	NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)	CDH23 (A3190V +2 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43201	NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)	MYO7A	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 11852	NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	MYO7A (R302H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 43134	NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)	MYO7A (R336H +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign 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 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 43185	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	MYO7A (V843M +1 more)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 43186	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	MYO7A (R853H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic 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 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 43207	NM_000260.4(MYO7A):c.3503+12_3503+33del	MYO7A	Deletion	Nonsyndromic genetic hearing loss	GBenign 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 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 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 45314	NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly)	TBCEL-TECTA, TECTA (R371G +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign 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 45317	NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)	TBCEL-TECTA, TECTA (N687K +1 more)	Single nucleotide variant (missense 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 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 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 165370	NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)	TBCEL-TECTA, TECTA (Y1946H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign 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 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 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 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance 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 44731	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	GJB2 (L76P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 158604	NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	GJB2 (L36P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance 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 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 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 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 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 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 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 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 45753	NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)	MYO15A (C1977R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database

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