ClinVar for MedGen (Select 7530) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342173	NM_005422.4(TECTA):c.4422del (p.Asn1474fs)	TBCEL-TECTA, TECTA (N1474fs +1 more)	Deletion (frameshift variant)	Meniere disease	GLikely pathogenic
Select item 1342172	NM_005422.4(TECTA):c.5368C>T (p.Pro1790Ser)	TBCEL-TECTA, TECTA (P1790S +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 1186525	NM_005422.4(TECTA):c.6353del (p.Gly2118fs)	TBCEL-TECTA, TECTA (G2118fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174005	NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)	SHROOM2 (G211S)	Single nucleotide variant (missense variant)	Meniere disease	GLikely pathogenic
Select item 1174004	NM_022124.6(CDH23):c.6512G>A (p.Arg2171His)	CDH23 (R2171H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989235	NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)	MYO7A (W1545*)	Single nucleotide variant (nonsense +1 more)	Meniere disease	GLikely pathogenic
Select item 957508	NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln)	MYO7A (R2160Q +2 more)	Single nucleotide variant (missense variant)	Meniere disease +1 more	GUncertain significance
Select item 948502	NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr)	PCDH15 (P1753T +8 more)	Single nucleotide variant (missense variant +1 more)	Meniere disease +1 more	GUncertain significance
Select item 816640	NM_001292063.2(OTOG):c.2203C>A (p.Pro735Thr)	OTOG (P735T +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 553231	NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)	MYO7A (M1I)	Single nucleotide variant (missense variant +2 more)	Meniere disease +3 more	GPathogenic/Likely pathogenic
Select item 306177	NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)	MYO7A (R836H +1 more)	Single nucleotide variant (missense variant)	Meniere disease +4 more	GConflicting classifications of pathogenicity
Select item 306171	NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)	MYO7A (R686H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GConflicting classifications of pathogenicity
Select item 303023	NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser)	TBCEL-TECTA, TECTA (C1402S +1 more)	Single nucleotide variant (missense variant)	Meniere disease +3 more	GUncertain significance
Select item 229094	NM_001292063.2(OTOG):c.385G>A (p.Val129Met)	OTOG (V141M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +2 more	GConflicting classifications of pathogenicity
Select item 229088	NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu)	OTOG (P1240L +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 228715	NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)	ADGRV1 (R5547H)	Single nucleotide variant (missense variant +1 more)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 227796	NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)	OTOG (R2556Q +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 226921	NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)	OTOG (K2842N +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GBenign/Likely benign
Select item 226920	NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)	OTOG (R2802H +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 226914	NM_001292063.2(OTOG):c.769G>A (p.Val257Ile)	OTOG (V269I +1 more)	Single nucleotide variant (missense variant)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 226902	NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)	OTOG (A2037V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 18B +4 more	GConflicting classifications of pathogenicity
Select item 226894	NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe)	OTOG (L1548F +1 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GBenign/Likely benign
Select item 226891	NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln)	OTOG (R1353Q +1 more)	Single nucleotide variant (missense variant)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 180103	NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)	TBCEL-TECTA, TECTA (V1494A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178496	NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)	MYO7A (A2083T +2 more)	Single nucleotide variant (missense variant)	Meniere disease +5 more	GConflicting classifications of pathogenicity
Select item 140609	NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)	DTNA (V655F +12 more)	Single nucleotide variant (missense variant)	Meniere disease +2 more	GConflicting classifications of pathogenicity
Select item 140608	NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)	FAM136A (Q76* +3 more)	Single nucleotide variant (nonsense)	Meniere disease	GPathogenic
Select item 46377	NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	ADGRV1 (P2528S)	Single nucleotide variant (missense variant +1 more)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 45931	NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)	C10orf105, CDH23 (N1282S)	Single nucleotide variant (missense variant +1 more)	Meniere disease +4 more	GConflicting classifications of pathogenicity
Select item 43338	NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)	MYO7A (G2214S +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 43187	NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)	MYO7A (R873W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1 +5 more	GConflicting classifications of pathogenicity
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 5148	NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)	USH1C (P608R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 33