ClinVar for MedGen (Select 235586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338645	NM_004004.6(GJB2):c.[101T>C;550C>T]	GJB2 (M34T +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 3338163	NM_022124.6(CDH23):c.4209+355G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338162	NM_022124.6(CDH23):c.3430+352C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338161	NM_022124.6(CDH23):c.430-27152G>C	CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338160	NM_022124.6(CDH23):c.430-24418A>T	CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338156	NM_001145026.2(PTPRQ):c.536G>A (p.Arg179Gln)	PTPRQ (R179Q)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 3338154	NM_206933.4(USH2A):c.11389+2566A>G	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338153	NM_206933.4(USH2A):c.11711+2233C>T	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338151	NM_206933.4(USH2A):c.6050-6893T>A	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338150	NM_206933.4(USH2A):c.4627+32137G>T	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338149	NM_206933.4(USH2A):c.4396+5913C>G	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338146	NM_005422.4(TECTA):c.2942-910A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338145	NM_000441.2(SLC26A4):c.1002-1867T>C	SLC26A4	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338144	NM_000441.2(SLC26A4):c.1149+339T>G	SLC26A4	Single nucleotide variant (intron variant)	Hearing impairment	GLikely benign
Select item 3338139	NM_001384140.1(PCDH15):c.92-24483A>G	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338137	NM_032119.4(ADGRV1):c.18152+18093A>T	ADGRV1	Single nucleotide variant (intron variant)	Hearing impairment	GLikely benign
Select item 3338135	NM_000260.4(MYO7A):c.19-5700G>A	MYO7A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338134	NM_017433.5(MYO3A):c.954-13684A>G	MYO3A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3024362	NM_003246.4(THBS1):c.1470del (p.Ile491fs)	THBS1 (I491fs)	Deletion (frameshift variant)	Hearing impairment	GUncertain significance
Select item 2598388	NM_003246.4(THBS1):c.698C>A (p.Ser233Tyr)	THBS1 (S233Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Hearing impairment +10 more	GUncertain significance
Select item 2571627	NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)	NAV3 (Q222*)	Single nucleotide variant (nonsense)	Hearing impairment +6 more	GUncertain significance
Select item 2570688	NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)	FASN (A418fs)	Microsatellite (frameshift variant)	Hearing impairment +7 more	GUncertain significance
Select item 1878506	NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)	SLC26A4 (W472*)	Single nucleotide variant (nonsense)	Hearing impairment	GPathogenic
Select item 1801710	NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)	MYO6 (A1086fs +4 more)	Duplication (frameshift variant +1 more)	Hearing impairment	GLikely pathogenic
Select item 1710508	NM_004525.3(LRP2):c.8452_8452+1del	LRP2	Deletion (splice donor variant)	Hearing impairment	GPathogenic
Select item 1710507	NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)	LRP2 (C3150Y)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1683531	NM_001110556.2(FLNA):c.6793G>A (p.Glu2265Lys)	FLNA (E2257K +1 more)	Single nucleotide variant (missense variant)	Thrombocytopenia +3 more	GUncertain significance
Select item 1678542	NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)	OXR1 (K71R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1527865	NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe)	ERAL1, LOC126862526 (I228F +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1472670	NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)	FOXP4 (A501T +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1334429	NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)	LRP2 (Y3933C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1330231	NM_001354604.2(MITF):c.979A>C (p.Ile327Leu)	MITF (I158L +9 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
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 1301864	NM_001080517.3(SETD5):c.2182del (p.Asp728fs)	SETD5 (D630fs +1 more)	Deletion (frameshift variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1298383	NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter)	OTOG (Q400* +1 more)	Single nucleotide variant (nonsense)	Hearing impairment	GPathogenic
Select item 1185004	NM_024063.3(AFG2B):c.[213T>G;1313T>C]	AFG2B (F71L +1 more)	Single nucleotide variant (missense variant +1 more)	Visual impairment +6 more	GLikely pathogenic
Select item 1172666	NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)	TMC1 (P274L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 1172665	NM_138691.3(TMC1):c.352G>T (p.Glu118Ter)	TMC1 (E118*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1065111	NM_004086.3(COCH):c.538C>T (p.Arg180Ter)	COCH, LOC100506071 (R180* +1 more)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 110 +1 more	GPathogenic/Likely pathogenic
Select item 1065110	NR_029512.1(MIR96):n.68A>G	MIR96	Single nucleotide variant (non-coding transcript variant)	Hearing impairment	GUncertain significance
Select item 1065109	NM_002160.4(TNC):c.5611A>G (p.Lys1871Glu)	LOC126860740, TNC (K1871E)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065107	NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp)	ESRRB (R322W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1065106	NM_022124.6(CDH23):c.1484T>G (p.Val495Gly)	CDH23 (V495G)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065105	NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn)	CDH23 (D377N)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065104	NM_001145026.2(PTPRQ):c.6883G>A (p.Glu2295Lys)	PTPRQ (E2295K)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065103	NM_004817.4(TJP2):c.85T>C (p.Trp29Arg)	TJP2 (W29R +3 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065102	NM_001292063.2(OTOG):c.882C>G (p.Asp294Glu)	OTOG (D294E +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065101	NM_001853.4(COL9A3):c.1924G>T (p.Gly642Trp)	COL9A3 (G642W)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065100	NM_182548.4(LHFPL5):c.592G>A (p.Val198Met)	LHFPL5 (V198M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065099	NM_001145809.2(MYH14):c.4549G>A (p.Glu1517Lys)	MYH14 (E1476K +2 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 1065098	NM_133261.3(GIPC3):c.319C>G (p.Arg107Gly)	GIPC3 (R107G)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065097	NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp)	COL11A2 (G25D)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065096	NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr)	DMXL2 (I891T +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing impairment	GLikely benign
Select item 1065095	NM_002160.4(TNC):c.6211G>A (p.Glu2071Lys)	TNC (E2071K)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065094	NM_133261.3(GIPC3):c.880G>A (p.Asp294Asn)	GIPC3 (D294N)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065093	NM_002160.4(TNC):c.1822C>T (p.Arg608Cys)	TNC (R608C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1065091	NM_144991.3(TSPEAR):c.1162G>A (p.Val388Met)	TSPEAR (V320M +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065090	NM_004999.4(MYO6):c.271G>A (p.Ala91Thr)	MYO6 (A91T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1065088	NM_032119.4(ADGRV1):c.1954A>G (p.Ile652Val)	ADGRV1 (I652V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1065086	NM_000601.6(HGF):c.2183C>A (p.Ser728Ter)	HGF (S723* +1 more)	Single nucleotide variant (nonsense)	Hearing impairment	GUncertain significance
Select item 1065085	NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)	SLC26A4 (N382K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1065084	NM_001277269.2:c.(?_3914)_(6474_?)del	OTOG	Deletion	Hearing impairment	GUncertain significance
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 1065082	NM_002700.3(POU4F3):c.746A>C (p.Gln249Pro)	LOC127814297, POU4F3 (Q249P)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065081	NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln)	CDH23 (R720Q)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
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 1065079	NM_015404.4(WHRN):c.508C>G (p.Leu170Val)	WHRN (L170V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065078	NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe)	OTOG (C484F +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 1065077	NM_015972.4(POLR1D):c.251T>A (p.Ile84Asn)	POLR1D (I84N)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1065076	NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser)	CLDN14, CLDN14-AS1 (G122S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1065075	NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr)	CHD7 (N2808T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1065074	NM_005422.4(TECTA):c.1807T>C (p.Tyr603His)	TBCEL-TECTA, TECTA (Y603H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065073	NM_014332.3(SMPX):c.238C>G (p.Leu80Val)	SMPX (L80V)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1065072	NM_153700.2:c.(?_1)_(5328_?)del	STRC	Deletion	Hearing impairment	GPathogenic
Select item 1065071	NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu)	PDZD7 (P678L)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065070	NM_000503.6(EYA1):c.398C>T (p.Pro133Leu)	EYA1 (P132L +4 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065069	NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys)	COL9A1 (R28C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065068	NM_000441.2(SLC26A4):c.530A>C (p.Asp177Ala)	SLC26A4 (D177A)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065067	NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp)	CEACAM16, CEACAM16-AS1 (R379W)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1065066	NM_002906.4(RDX):c.694G>A (p.Asp232Asn)	RDX (D232N +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 1065065	NM_001039141.3(TRIOBP):c.6049G>C (p.Asp2017His)	TRIOBP (D2017H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065064	NM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro)	LOC126863145, TRIOBP (T113P +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065063	NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu)	MYO7A (V371L +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065062	NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val)	MYO7A (L330V +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1065061	NM_001145809.2(MYH14):c.3974G>A (p.Arg1325Gln)	MYH14 (R1284Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065060	NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)	MYO7A (M1309V +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GUncertain significance
Select item 1065059	NM_005422.4(TECTA):c.668C>T (p.Pro223Leu)	TBCEL-TECTA, TECTA (P223L +1 more)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 1065057	NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)	COL11A2 (R1034H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065056	NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg)	MYO15A (Q3172R)	Single nucleotide variant (missense 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 1065054	NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)	USH2A (P3353L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1065053	NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His)	TMPRSS3 (P195H +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely pathogenic
Select item 1065051	NM_005422.4(TECTA):c.2367G>A (p.Lys789=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Hearing impairment	GLikely pathogenic
Select item 1065050	NM_005422.4(TECTA):c.2785del (p.Val929fs)	LOC126861365, TBCEL-TECTA +1 more (V1248fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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