ClinVar for MedGen (Select 96788) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185585	NM_181659.3(NCOA3):c.2810C>G (p.Ser937Cys)	NCOA3 (S932C +1 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 1185584	NM_004086.3(COCH):c.1624T>C (p.Cys542Arg)	COCH, LOC100506071 (C542R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Bilateral sensorineural hearing impairment +1 more	GPathogenic
Select item 1185583	NM_004700.4(KCNQ4):c.701A>T (p.His234Leu)	KCNQ4 (H234L)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 1185582	NM_005422.4(TECTA):c.5383+5_5383+8del	TBCEL-TECTA, TECTA	Microsatellite (splice donor variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 1185581	NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser)	P2RX2 (F286S +5 more)	Single nucleotide variant (missense variant +1 more)	Bilateral sensorineural hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1185580	NM_000141.5(FGFR2):c.2053G>T (p.Asp685Tyr)	FGFR2 (D457Y +9 more)	Single nucleotide variant (missense variant +1 more)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 1185579	NM_194248.3(OTOF):c.1392+1del	OTOF	Deletion (splice donor variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 1185578	NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)	OTOF (E1017* +2 more)	Single nucleotide variant (nonsense)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 1185577	NM_194248.3(OTOF):c.5785A>C (p.Asn1929His)	OTOF (N1162H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1185576	NM_194248.3(OTOF):c.4981G>A (p.Glu1661Lys)	OTOF (E1661K +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 1185575	NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter)	OTOF (K1044* +2 more)	Single nucleotide variant (nonsense)	Bilateral sensorineural hearing impairment +1 more	GPathogenic/Likely pathogenic
Select item 1185574	NM_194248.3(OTOF):c.4541A>G (p.Asp1514Gly)	OTOF (D1514G +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +1 more	GLikely pathogenic
Select item 1185573	NM_194248.3(OTOF):c.4960G>A (p.Gly1654Ser)	OTOF (G1654S +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +1 more	GLikely pathogenic
Select item 1185572	NM_194248.3(OTOF):c.4961-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	Bilateral sensorineural hearing impairment +1 more	GPathogenic/Likely pathogenic
Select item 1184810	GRCh37/hg19 2p14-13.3(chr2:68475209-68676657)x3	PPP3R1, CNRIP1 +1 more	Copy number gain	Bilateral sensorineural hearing impairment	GUncertain significance
Select item 983525	NM_002906.4(RDX):c.129G>A (p.Trp43Ter)	RDX (W43*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 24	GPathogenic
Select item 983524	NM_002906.4(RDX):c.-64-1215_12+348del	RDX	Deletion (splice acceptor variant +2 more)	Autosomal recessive nonsyndromic hearing loss 24	GLikely pathogenic
Select item 983425	NC_000004.12:g.143428960_143495936dup	GAB1, LOC126807172	Duplication	Bilateral sensorineural hearing impairment	GUncertain significance
Select item 978271	NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter)	CDH23 (W778*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 690365	NM_138691.3(TMC1):c.530T>C (p.Ile177Thr)	TMC1 (I177T)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 633603	NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)	PLS1 (F128S)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 504517	NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)	OTOF (R1068H +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GConflicting classifications of pathogenicity
Select item 426106	NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)	TWNK (R374Q)	Single nucleotide variant (missense variant +2 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 402270	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF (R1583C +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 375457	NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys)	COL9A3 (R583C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 374265	NM_012335.4(MYO1F):c.1781G>A (p.Arg594Gln)	MYO1F (R594Q +1 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GUncertain significance
Select item 267900	46;XX;t(1;5)(q32;q15)dn		Translocation	Motor delay +3 more	GUncertain significance
Select item 208176	NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)	ATF6 (Y567N)	Single nucleotide variant (missense variant)	Achromatopsia 7	GPathogenic
Select item 208172	NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)	ATF6 (R324C)	Single nucleotide variant (missense variant)	Achromatopsia 7 +2 more	GPathogenic
Select item 178993	NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)	MYO7A (A230V +1 more)	Single nucleotide variant (missense variant)	MYO7A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 65812	NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	OTOF (L1934fs +2 more)	Duplication (frameshift variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 65798	NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)	OTOF (R1134* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GPathogenic
Select item 65796	NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)	OTOF (R1080P +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 65794	NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)	OTOF (A222fs +2 more)	Indel (frameshift variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 65793	NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)	OTOF (A964E +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 65784	NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)	OTOF (G614E)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GLikely pathogenic
Select item 65777	NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)	OTOF (R518fs)	Deletion (frameshift variant)	Bilateral sensorineural hearing impairment +1 more	GPathogenic
Select item 48240	NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	OTOF (I1573T +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 48219	NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)	OTOF (N1203S +2 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +3 more	GBenign/Likely benign
Select item 48187	NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)	OTOF (W718*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 21834	NM_194248.3(OTOF):c.2348del (p.Gly783fs)	OTOF (G783fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 9 +4 more	GPathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 7462	NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)	KCNJ10 (R65P)	Single nucleotide variant (missense variant)	Microcephaly +5 more	GPathogenic

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Links from MedGen

Items: 44