ClinVar for MedGen (Select 4155) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384129	NM_138691.3(TMC1):c.507dup (p.Trp170fs)	TMC1 (W170fs)	Duplication (frameshift variant)	Deafness	GLikely pathogenic
Select item 3384109	NM_000441.2(SLC26A4):c.1150G>C (p.Glu384Gln)	SLC26A4 (E384Q)	Single nucleotide variant (missense variant)	Deafness	GLikely pathogenic
Select item 3384090	NM_007118.4(TRIO):c.7448dup (p.Ser2484fs)	TRIO (S2484fs)	Duplication (frameshift variant)	Deafness	GLikely pathogenic
Select item 3384029	NM_001384474.1(LOXHD1):c.759+2T>A	LOXHD1	Single nucleotide variant (splice donor variant)	Deafness	GPathogenic
Select item 2045960	NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)	RAI1 (T1136M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1810252	NM_138691.3(TMC1):c.846dup (p.Met283fs)	TMC1 (M283fs)	Duplication (frameshift variant)	Deafness	GPathogenic
Select item 1810248	NM_000214.3(JAG1):c.1052del (p.Cys351fs)	JAG1 (C351fs)	Deletion (frameshift variant)	Deafness	GPathogenic
Select item 1810226	NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs)	PDZD7 (Q737fs)	Indel (frameshift variant)	Deafness	GPathogenic
Select item 1810222	NM_001042702.5(PJVK):c.667+6T>A	PJVK	Single nucleotide variant (intron variant)	Deafness	GLikely pathogenic
Select item 872981	NM_032940.3(POLR2C):c.545T>C (p.Val182Ala)	POLR2C (V182A)	Single nucleotide variant (missense variant)	Deafness +1 more	GUncertain significance
Select item 812719	NM_018429.3(BDP1):c.1714G>T (p.Val572Phe)	BDP1 (V572F)	Single nucleotide variant (missense variant)	Deafness	GLikely pathogenic
Select item 560920	NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)	WHRN (N796fs +3 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560919	NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)	USH2A, USH2A-AS1 (Q1221*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 560918	NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)	USH1G (E171* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1G	GPathogenic
Select item 560917	NM_173477.5(USH1G):c.812del (p.Pro271fs)	USH1G (P168fs +1 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560916	NM_138691.3(TMC1):c.945G>A (p.Trp315Ter)	TMC1 (W315*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560915	NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys)	TMC1 (N576K)	Single nucleotide variant (missense variant)	Deafness +1 more	GPathogenic/Likely pathogenic
Select item 560914	NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter)	TMC1 (W403*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560913	NM_138691.3(TMC1):c.1224+2T>C	TMC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 560912	NM_005422.4(TECTA):c.1774G>A (p.Val592Met)	TBCEL-TECTA, TECTA (V592M +1 more)	Single nucleotide variant (missense variant)	Deafness +1 more	GPathogenic/Likely pathogenic
Select item 560911	NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)	SLC26A4, SLC26A4-AS1 (K52*)	Single nucleotide variant (non-coding transcript variant +1 more)	Deafness +1 more	GPathogenic/Likely pathogenic
Select item 560910	NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)	SLC26A4 (A106V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 560909	NM_000441.2(SLC26A4):c.42del (p.Glu15fs)	SLC26A4, SLC26A4-AS1 (E15fs)	Deletion (non-coding transcript variant +1 more)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560908	NM_000441.2(SLC26A4):c.1264-3C>G	SLC26A4	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560907	NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs)	PTPRQ (I1720fs)	Microsatellite (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560906	NM_001145026.2(PTPRQ):c.6739-1G>A	PTPRQ	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560905	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK (R136* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 560904	NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)	PJVK (P55fs +2 more)	Deletion (frameshift variant +1 more)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560903	NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)	PJVK (S53* +2 more)	Single nucleotide variant (nonsense +1 more)	Deafness +1 more	GPathogenic/Likely pathogenic
Select item 560902	NM_001292063.2(OTOG):c.7199del (p.Cys2400fs)	OTOG (C2400fs +1 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560901	NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)	OTOF (L517P)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560900	NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)	OTOF (I436fs +2 more)	Duplication (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560899	NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)	MYO7A (L1197P +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560898	NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)	MYO7A (G1782A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 560897	NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)	MYO7A (L1122I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 560896	NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)	MYO7A (R83S +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 560895	NM_000260.4(MYO7A):c.5326+3A>G	MYO7A	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560894	NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)	MYO7A (T1841R +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560893	NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)	MARVELD2 (V397fs +1 more)	Duplication (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560892	NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)	ILDR1 (W299fs +2 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560891	NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)	GRXCR1 (E219K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560890	NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)	GPSM2 (F46L)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560889	NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)	GJB2 (E119*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560888	NM_004447.6(EPS8):c.205-8A>G	EPS8	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 102	GUncertain significance
Select item 560887	NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)	CLCNKA, LOC106501712 (G662V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 560886	NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)	CDH23 (T2068P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560885	NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)	CDH23 (L2785fs +1 more)	Insertion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 517448	NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)	MYO7A (D1502G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 505548	NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)	LHFPL5 (R158W)	Single nucleotide variant (missense variant)	Deafness +1 more	GConflicting classifications of pathogenicity
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Ear malformation +9 more	GPathogenic/Likely pathogenic
Select item 448957	NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter)	LOXHD1 (W249*)	Single nucleotide variant (nonsense)	Deafness	GPathogenic
Select item 437932	NM_005548.2(KARS1):c.[1430G>A];[1513C>T]			Leukoencephalopathy +1 more	GPathogenic
Select item 424808	NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]			Autosomal recessive nonsyndromic hearing loss 77	GPathogenic
Select item 252629	NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)	EPS8 (F444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 217754	NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	DIAPH1 (R1049* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 165587	NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)	TRIOBP (R1344Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +4 more	GConflicting classifications of pathogenicity
Select item 43565	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	SLC26A4 (L236V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenicFDA Recognized database
Select item 43528	NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	SLC26A4 (I655V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenicFDA Recognized database
Select item 43510	NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	SLC26A4 (G497S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +5 more	GConflicting classifications of pathogenicity
Select item 30990	NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	LOXHD1 (R1572* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +3 more	GPathogenic/Likely pathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +14 more	GPathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenicFDA Recognized database
Select item 14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9 (E1841K)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 4816	NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]	SLC26A4 (G497S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic

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Items: 65