ClinVar for PubMed (Select 24033266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172512	NM_000179.3(MSH6):c.[3601C>G;3724C>A]	MSH6 (L1201V +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +1 more	GLikely pathogenic
Select item 1120175	NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]	APOL1 (I400M +5 more)	Single nucleotide variant (missense variant)	Hyalinosis, Segmental Glomerular	Grisk factor
Select item 1120143	NM_016239.4(MYO15A):c.3585C>T (p.Val1195=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1120142	NM_002473.6(MYH9):c.5694C>T (p.Arg1898=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1120141	NM_015340.4(LARS2):c.2490G>A (p.Pro830=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1120140	NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr)	KARS1 (N425T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1120139	NM_000414.4(HSD17B4):c.264T>C (p.Asp88=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GLikely benign
Select item 1120138	NM_004100.5(EYA4):c.1739-48C>T	EYA4, TARID	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1120137	NM_031475.3(ESPN):c.2502G>A (p.Glu834=)	ESPN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1120136	NM_014000.3(VCL):c.2949+1del	VCL	Deletion (intron variant +1 more)	not specified	GUncertain significance
Select item 1120135	NM_173477.5(USH1G):c.481A>C (p.Met161Leu)	USH1G (M161L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120134	NM_173477.5(USH1G):c.1179G>T (p.Glu393Asp)	USH1G (E290D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120133	NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)	NDE1 (R44*)	Single nucleotide variant (nonsense)	NDE1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1120132	NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)	MYO7A (A1551V)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GUncertain significance
Select item 1120131	NM_000260.4(MYO7A):c.652G>C (p.Asp218His)	MYO7A (D207H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120130	NM_017433.5(MYO3A):c.168+3_168+4del	MYO3A	Deletion (intron variant)	not specified	GUncertain significance
Select item 1120129	NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile)	MYO15A (V1488I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120128	NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)	MYH9 (R1726H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1120127	NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala)	LOXHD1 (V2177A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120126	NM_032119.4(ADGRV1):c.16010G>A (p.Gly5337Glu)	ADGRV1 (G5337E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1120125	NM_032119.4(ADGRV1):c.9746T>C (p.Met3249Thr)	ADGRV1 (M3249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120124	NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)	ADGRV1 (R762H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1120123	NM_147127.5(EVC2):c.222_228+21del	EVC2	Deletion (intron variant +1 more)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 1120122	NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter)	LOXHD1 (E1349* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 1120121	NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter)	OTOG (Q1836* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 1120120	NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	MBOAT7 (L158fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GPathogenic/Likely pathogenic
Select item 1120119	NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)	ABCG5, DYNC2LI1 (Q251*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +2 more	GPathogenic
Select item 1120118	NM_001363711.2(DUOX2):c.3416-1G>A	DUOX2	Single nucleotide variant (splice acceptor variant)	Congenital hypothyroidism	GLikely pathogenic
Select item 1120117	NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs)	CPLANE1 (L663fs)	Duplication (frameshift variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 1120116	NM_001379500.1(COL18A1):c.1335_1336dup (p.Gly446fs)	COL18A1 (G446fs +2 more)	Microsatellite (frameshift variant)	Knobloch syndrome	GLikely pathogenic
Select item 1120115	NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)	ASXL1 (K462* +1 more)	Single nucleotide variant (nonsense)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 1120114	NM_006012.4(CLPP):c.39G>A (p.Ala13=)	CLPP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1120113	NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)	CDC14A (A11T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120112	NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)	ALMS1 (H687Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1120111	NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val)	ADGRV1 (M5441V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1120110	NM_153700.2(STRC):c.22CTG[10] (p.Leu18del)	STRC (L18del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 1120109	NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His)	TRIOBP (R2083H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120108	NM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp)	TRIOBP (R1930W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120107	NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg)	TMC1 (K731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120106	NM_005422.4(TECTA):c.4651G>A (p.Glu1551Lys)	TBCEL-TECTA, TECTA (E1551K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120105	NM_005422.4(TECTA):c.2995A>G (p.Thr999Ala)	TECTA, TBCEL-TECTA (T1318A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120104	NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)	LAMA4 (A616T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1120103	NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro)	KCNE1 (S74P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1120102	NM_001563.4(IMPG1):c.907C>T (p.Gln303Ter)	IMPG1 (Q225* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1120101	NM_001563.4(IMPG1):c.1795C>T (p.Arg599Ter)	IMPG1 (R521* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1120100	NM_006735.4(HOXA2):c.50C>A (p.Ser17Ter)	HOXA2 (S17*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1120099	NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)	HNF1A (T82M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120098	NM_000601.6(HGF):c.1343A>G (p.His448Arg)	HGF (H443R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120097	NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)	TCTN3 (C344fs +1 more)	Deletion (frameshift variant)	not specified +2 more	GUncertain significance
Select item 1120096	NM_153700.2(STRC):c.2495G>A (p.Arg832Gln)	STRC (R832Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120095	NC_000007.14:g.107660715C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 1120094	NC_000001.10:g.(?_3313055)_(3313157_?)del	PRDM16	Deletion	not specified	GUncertain significance
Select item 1120093	NM_001042702.5(PJVK):c.478A>G (p.Met160Val)	PJVK (M160V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120092	NM_001042702.5(PJVK):c.1A>G (p.Met1Val)	PJVK (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1120091	NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val)	COL4A5 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120090	NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val)	COL4A3, MFF-DT (E1084V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120089	NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)	COL11A2 (P831S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1120088	NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	POMT1 (Q267* +9 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 1120087	NM_153700.2(STRC):c.461del (p.Pro154fs)	STRC (P154fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 1120086	NM_153700.2(STRC):c.2356del (p.Leu786fs)	STRC (L786fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 1120085	NM_020547.3(AMHR2):c.43del (p.Val15fs)	AMHR2 (V15fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 1120084	NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs)	ALMS1 (K553fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 1120083	NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs)	AGPS (E346fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 1120082	NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)	AGL (R1131* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GLikely pathogenic
Select item 1120081	NM_019032.6(ADAMTSL4):c.1712C>A (p.Ser571Ter)	ADAMTSL4, ADAMTSL4-AS2 (S571* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1120080	NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter)	SCNN1G (R440*)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1120079	NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)	TRIP11 (R1027* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GLikely pathogenic
Select item 1120078	NM_006005.3(WFS1):c.2028C>T (p.Arg676=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-related disorder +2 more	GLikely benign
Select item 1120077	NM_006005.3(WFS1):c.630C>T (p.His210=)	WFS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1120076	NM_032229.3(SLITRK6):c.663C>T (p.Ala221=)	SLITRK6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1120075	NM_032229.3(SLITRK6):c.769A>G (p.Ile257Val)	SLITRK6 (I257V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1120074	NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu)	GRHL3 (D55E +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1120073	NM_001142864.4(PIEZO1):c.1107+1G>C	HSALR1, PIEZO1	Single nucleotide variant (splice donor variant)	PIEZO1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1120072	NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp)	PCDH15 (E1122D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120071	NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln)	OTOG (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120070	NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser)	CDH23 (T670S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120069	NM_022124.6(CDH23):c.1134+26G>A	CDH23 (C387Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120068	NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)	CACNA1D (I805T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120067	NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser)	CACNA1D (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120065	NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)	BCS1L (S65R)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GUncertain significance
Select item 1120064	NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile)	ATP6V1B1 (V224I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1120063	NC_000001.10:g.(?_216011333)_(216040512_?)del	USH2A	Deletion	Usher syndrome	GLikely pathogenic
Select item 1120062	NM_024077.5(SECISBP2):c.182+1G>A	SECISBP2	Single nucleotide variant (splice donor variant)	Thyroid hormone metabolism, abnormal 1	GLikely pathogenic
Select item 1120061	NM_001378609.3(OTOGL):c.4082-1G>C	OTOGL	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 1120060	NM_001378609.3(OTOGL):c.3168G>A (p.Trp1056Ter)	OTOGL (W1011* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 1120058	NM_004568.6(SERPINB6):c.1092C>A (p.Thr364=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1120057	NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr)	S1PR2 (A225T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1120056	NM_000307.5(POU3F4):c.249C>A (p.Pro83=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1120055	NM_001378609.3(OTOGL):c.2271C>T (p.Phe757=)	OTOGL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1120054	NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)	OTOA (D394G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1120053	NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)	MYO15A (R2588W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1112010	NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=)	LOXHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1108485	NM_002109.6(HARS1):c.174C>G (p.Thr58=)	HARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1076087	NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)	ALPL (Y101* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1058160	NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg)	PDZD7 (P505T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030630	NM_003126.4(SPTA1):c.4339-99C>T	SPTA1	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic
Select item 1028940	NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter)	AURKC (Y214* +2 more)	Single nucleotide variant (nonsense)	Male infertility with spermatogenesis disorder +1 more	GPathogenic
Select item 1018742	NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)	WHRN (A126T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 990282	NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)	CDH23 (I1890F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 989836	NM_022124.6(CDH23):c.4746C>T (p.Ser1582=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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