C1384666[trait identifier] AND "Department of Otolaryngology – Head & - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1049775	NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)	KCNQ4 (I140T)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GUncertain significance
Select item 1064936	NM_004700.4(KCNQ4):c.1251del (p.Cys418fs)	KCNQ4 (C418fs)	Deletion (frameshift variant +1 more)	Hearing impairment	GLikely pathogenic
Select item 4389	NM_057176.3(BSND):c.10G>T (p.Glu4Ter)	BSND (E4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1065025	NM_057176.3(BSND):c.254T>C (p.Leu85Pro)	BSND (L85P)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065032	NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)	COL11A1 (D1671N +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1065087	NM_001854.4(COL11A1):c.5274+4A>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1065055	NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)	COL11A1 (D1451G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065092	NM_001854.4(COL11A1):c.4691A>G (p.Asp1564Gly)	COL11A1 (D1448G +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 493048	NM_001854.4(COL11A1):c.4302+2T>C	COL11A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 444173	NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)	COL11A1 (A1272E +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1064982	NM_001854.4(COL11A1):c.3472G>T (p.Val1158Phe)	COL11A1 (V1042F +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1064930	NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)	COL11A1 (G1054A +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1064929	NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)	COL11A1 (R754W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 497900	NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)	COL11A1 (D672N +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +2 more	GConflicting classifications of pathogenicity
Select item 424907	NM_001854.4(COL11A1):c.652-1G>C	COL11A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 163643	NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)	CLCC1, GPSM2 (V626L)	Single nucleotide variant (3 prime UTR variant +2 more)	Hearing impairment +1 more	GUncertain significance
Select item 48442	NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	USH2A (L4840P)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 1064905	NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile)	USH2A (T4799I)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1049264	NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)	USH2A (A4153V)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 1065054	NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)	USH2A (P3353L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 866347	NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)	USH2A (G3138A)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 197509	NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)	USH2A (F2910L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1064887	NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser)	USH2A (P2818S)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1064963	NM_206933.4(USH2A):c.5919G>A (p.Val1973=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1065026	NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met)	USH2A, USH2A-AS2 (L1774M)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 444203	NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	USH2A, USH2A-AS2 (W1706*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1064947	NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)	USH2A (G679R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 833673	NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)	USH2A (S633L)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 848645	NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)	USH2A (T529P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1064961	NM_206933.4(USH2A):c.1270A>T (p.Met424Leu)	USH2A (M424L)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 97934	NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)	NLRP3 (R490K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1064992	NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)	OTOF (R1045W +2 more)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 666892	NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile)	OTOF (M1480I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1050348	NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln)	OTOF (R1143Q +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1064991	NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter)	OTOF (Q160* +2 more)	Single nucleotide variant (nonsense)	Hearing impairment	GLikely pathogenic
Select item 1064974	NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)	OTOF (R654W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065083	NM_194248.3(OTOF):c.1882G>A (p.Asp628Asn)	OTOF (D628N)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 48176	NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)	OTOF (R544C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9 +3 more	GConflicting classifications of pathogenicity
Select item 1065040	NM_194248.3(OTOF):c.874A>G (p.Thr292Ala)	OTOF (T292A)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065019	NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His)	ATP6V1B1 (R38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 179919	NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp)	ATP6V1B1 (R124W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064980	NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile)	ALMS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GLikely pathogenic
Select item 434131	NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)	ALMS1 (T3155S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 553728	NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)	ALMS1 (Y3269C +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1064981	NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)	LOC126806252, ALMS1 (V3963A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1065014	NM_001042702.5(PJVK):c.113T>C (p.Val38Ala)	PJVK (V38A +2 more)	Single nucleotide variant (missense variant +2 more)	Hearing impairment	GUncertain significance
Select item 1065005	NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln)	PJVK (R137Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1065041	NM_181458.4(PAX3):c.1145C>A (p.Pro382His)	LOC126806529, PAX3 (P381H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 334559	NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	LOC126806529, PAX3 (P373L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1064926	NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)	COL4A4 (A1246T)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 550720	NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)	COL4A3, MFF-DT (P432L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1065000	NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)	COL4A3, MFF-DT (G1101E)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	COL4A3-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1064889	NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)	COL4A3, MFF-DT (W1574R)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1064923	NM_001001331.4(ATP2B2):c.10A>G (p.Met4Val)	ATP2B2 (M4V)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 3391	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	TMIE (R84W +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +2 more	GLikely pathogenic
Select item 1064910	NM_004186.5(SEMA3F):c.1849G>A (p.Val617Met)	SEMA3F (V518M +2 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065112	NM_001128840.3(CACNA1D):c.1116+2T>C	CACNA1D	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065080	NM_001128840.3(CACNA1D):c.3614C>T (p.Ser1205Leu)	CACNA1D (S1205L +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1064978	NM_001128840.3(CACNA1D):c.3682G>A (p.Glu1228Lys)	CACNA1D (E1228K +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 425297	NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala)	CACNA1D (G2129A +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 228748	NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)	ILDR1 (Q258* +1 more)	Single nucleotide variant (nonsense +1 more)	Hearing impairment +3 more	GConflicting classifications of pathogenicity
Select item 1064911	NM_001199799.2(ILDR1):c.655C>T (p.Arg219Cys)	ILDR1 (R130C +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GUncertain significance
Select item 163702	NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu)	ILDR1 (S154L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1064916	NM_001199799.2(ILDR1):c.182G>A (p.Arg61His)	ILDR1 (R61H)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 228521	NM_174878.3(CLRN1):c.433+1061A>T	CLRN1	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 555368	NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)	CLRN1, CLRN1-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Usher syndrome type 3 +1 more	GLikely pathogenic
Select item 215388	NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)	WFS1 (F439C)	Single nucleotide variant (missense variant)	WFS1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 215389	NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)	WFS1 (R457S)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 215394	NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)	WFS1 (G674R)	Single nucleotide variant (missense variant)	WFS1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 215395	NM_006005.3(WFS1):c.2054G>A (p.Arg685His)	WFS1 (R685H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064886	NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln)	WFS1 (L833Q)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 632441	NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)	GRXCR1 (R147C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GConflicting classifications of pathogenicity
Select item 1065089	NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln)	MANBA (R550Q)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 425344	NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)	MARVELD2 (F294fs)	Deletion (frameshift variant)	Hearing impairment +1 more	GLikely pathogenic
Select item 871776	NM_001038603.3(MARVELD2):c.1331+2T>C	MARVELD2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1064979	NM_018429.3(BDP1):c.7744-1G>A	BDP1	Single nucleotide variant (splice acceptor variant)	Hearing impairment	GUncertain significance
Select item 1064951	NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)	ADGRV1 (R493*)	Single nucleotide variant (nonsense +1 more)	Ear malformation +2 more	GPathogenic/Likely pathogenic
Select item 1065088	NM_032119.4(ADGRV1):c.1954A>G (p.Ile652Val)	ADGRV1 (I652V)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GUncertain significance
Select item 853185	NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)	ADGRV1 (T879M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 1064877	NM_032119.4(ADGRV1):c.3232G>A (p.Glu1078Lys)	ADGRV1 (E1078K)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1064969	NM_032119.4(ADGRV1):c.3245C>T (p.Pro1082Leu)	ADGRV1 (P1082L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 505428	NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)	ADGRV1 (V1990A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064891	NM_032119.4(ADGRV1):c.6274A>C (p.Ile2092Leu)	ADGRV1 (I2092L)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1064879	NM_032119.4(ADGRV1):c.7319C>T (p.Ala2440Val)	ADGRV1 (A2440V)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1064941	NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)	ADGRV1 (V2579M)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 46383	NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)	ADGRV1 (I2704F)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 1065039	NM_032119.4(ADGRV1):c.9512T>C (p.Leu3171Ser)	ADGRV1 (L3171S)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 969658	NM_032119.4(ADGRV1):c.11783A>G (p.Tyr3928Cys)	ADGRV1 (Y3928C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163601	NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)	ADGRV1 (V4061F)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +4 more	GConflicting classifications of pathogenicity
Select item 198024	NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)	ADGRV1 (V4070I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1064907	NM_032119.4(ADGRV1):c.14474A>G (p.Asp4825Gly)	ADGRV1 (D4825G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1065038	NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)	ADGRV1 (K5456N)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GLikely pathogenic
Select item 1000288	NM_032119.4(ADGRV1):c.16625C>A (p.Ala5542Asp)	ADGRV1 (A5542D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1065035	NM_032119.4(ADGRV1):c.17333T>C (p.Leu5778Pro)	ADGRV1 (L5778P)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 493417	NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	DIAPH1 (M1081fs +1 more)	Duplication (frameshift variant)	Hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 1065010	NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)	DIAPH1 (P694L +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1065027	NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu)	DIAPH1 (Q307E +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 546983	NM_002700.3(POU4F3):c.214C>G (p.His72Asp)	LOC127814297, POU4F3 (H72D)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GConflicting classifications of pathogenicity

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