Related gene-specific medical variations for Gene (Select 2068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288794	NM_177417.3(KLC3):c.1303A>G (p.Ile435Val)	ERCC2, KLC3 (I435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288793	NM_177417.3(KLC3):c.1393A>C (p.Met465Leu)	ERCC2, KLC3 (M465L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250794	NM_177417.3(KLC3):c.1362G>A (p.Ala454=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3242644	NC_000019.9:g.(?_45860508)_(45868436_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242643	NC_000019.9:g.(?_45855459)_(45857303_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242642	NC_000019.9:g.(?_45854887)_(45860977_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242641	NC_000019.9:g.(?_45873371)_(45873798_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242640	NC_000019.9:g.(?_45864762)_(45873798_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242639	NC_000019.9:g.(?_45860411)_(45860729_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242638	NC_000019.9:g.(?_45873774)_(45873798_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3242637	NC_000019.9:g.(?_45854887)_(45873798_?)del	ERCC2	Deletion	not provided	GPathogenic
Select item 3241416	NM_000400.4(ERCC2):c.1544-7_1552del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241415	NM_000400.4(ERCC2):c.852del (p.Glu284fs)	ERCC2 (E260fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241412	NM_000400.4(ERCC2):c.1187dup (p.Leu397fs)	ERCC2 (L373fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241410	NM_000400.4(ERCC2):c.1378-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241408	NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter)	ERCC2 (E62* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241407	NM_000400.4(ERCC2):c.1832-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241406	NM_000400.4(ERCC2):c.1902+2T>C	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241405	NM_000400.4(ERCC2):c.1378-1_1380del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241404	NM_000400.4(ERCC2):c.381del (p.Lys128fs)	ERCC2 (K104fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241403	NM_000400.4(ERCC2):c.950-3_950-2del	ERCC2	Deletion (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241402	NM_000400.4(ERCC2):c.1959del (p.Phe654fs)	ERCC2 (F654fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241401	NM_000400.4(ERCC2):c.948_949+2delinsCCC	ERCC2	Indel (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241400	NM_000400.4(ERCC2):c.1953_1956del (p.Phe651fs)	ERCC2 (F651fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241399	NM_000400.4(ERCC2):c.1480-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241398	NM_000400.4(ERCC2):c.390_391insT (p.Asp131Ter)	ERCC2 (D107* +1 more)	Insertion (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241397	NM_000400.4(ERCC2):c.1912G>T (p.Glu638Ter)	ERCC2 (E638*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241396	NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)	ERCC2 (C166* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241395	NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs)	ERCC2 (K692fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3241394	NM_000400.4(ERCC2):c.1999_2000delinsA (p.Ala667fs)	ERCC2 (A667fs)	Indel (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 3233331	NM_000400.4(ERCC2):c.1238-1199T>C	ERCC2 (C394R)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 3115229	NM_177417.3(KLC3):c.1510C>T (p.His504Tyr)	ERCC2, KLC3 (H504Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115228	NM_177417.3(KLC3):c.1475G>A (p.Arg492Gln)	ERCC2, KLC3 (R492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115227	NM_177417.3(KLC3):c.1414G>A (p.Val472Met)	ERCC2, KLC3 (V472M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115226	NM_177417.3(KLC3):c.1370G>A (p.Gly457Glu)	ERCC2, KLC3 (G457E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115225	NM_177417.3(KLC3):c.1364C>T (p.Ala455Val)	ERCC2, KLC3 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115224	NM_177417.3(KLC3):c.1352G>C (p.Arg451Pro)	ERCC2, KLC3 (R451P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115223	NM_177417.3(KLC3):c.1280G>A (p.Arg427His)	ERCC2, KLC3 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115222	NM_177417.3(KLC3):c.1279C>T (p.Arg427Cys)	ERCC2, KLC3 (R427C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2675070	NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)	ERCC2 (A717fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675068	NM_000400.4(ERCC2):c.1347_1377+7del	ERCC2	Deletion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675067	NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)	ERCC2 (W696*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675065	NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)	ERCC2 (E27* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675063	NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)	ERCC2 (E20fs)	Duplication (frameshift variant +1 more)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675062	NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)	ERCC2 (V604fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675061	NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)	ERCC2 (F539fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675060	NM_000400.4(ERCC2):c.136dup (p.Thr46fs)	ERCC2 (T22fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675059	NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)	ERCC2 (Y187* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675058	NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)	ERCC2 (W552*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675057	NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)	ERCC2 (Y386* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675056	NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)	ERCC2 (Y584*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675055	NM_000400.4(ERCC2):c.1759-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675054	NM_000400.4(ERCC2):c.2191-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675052	NM_000400.4(ERCC2):c.1024del (p.Trp342fs)	ERCC2 (W318fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675049	NM_000400.4(ERCC2):c.956dup (p.Pro320fs)	ERCC2 (P296fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675048	NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)	ERCC2 (K603fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GPathogenic
Select item 2675045	NM_000400.4(ERCC2):c.1543+2_1543+33inv	ERCC2	Inversion (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675044	NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)	ERCC2 (Q163* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675041	NM_000400.4(ERCC2):c.1544-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675040	NM_000400.4(ERCC2):c.2047-2A>C	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675039	NM_000400.4(ERCC2):c.361-1G>A	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GPathogenic
Select item 2675037	NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)	ERCC2 (L109fs +1 more)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675036	NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)	ERCC2 (C110* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675035	NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)	ERCC2 (K603fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675033	NM_000400.4(ERCC2):c.478-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675031	NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)	ERCC2 (H434fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675030	NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)	ERCC2 (A600fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675029	NM_000400.4(ERCC2):c.1307+1G>A	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2675028	NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)	ERCC2	Duplication (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 2	GLikely pathogenic
Select item 2650099	NM_177417.3(KLC3):c.1485C>T (p.Ser495=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616121	NM_177417.3(KLC3):c.1164G>C (p.Gln388His)	ERCC2, KLC3 (Q388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524349	NM_177417.3(KLC3):c.1459C>A (p.Leu487Met)	ERCC2, KLC3 (L487M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454947	NM_177417.3(KLC3):c.1394T>C (p.Met465Thr)	ERCC2, KLC3 (M465T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454665	NM_177417.3(KLC3):c.1264G>A (p.Ala422Thr)	ERCC2, KLC3 (A422T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2441812	NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)	ERCC2 (D673fs)	Deletion (frameshift variant)	Trichothiodystrophy 1, photosensitive +2 more	GLikely pathogenic
Select item 2441283	NM_000400.4(ERCC2):c.185C>T (p.Ala62Val)	ERCC2 (A38V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411692	NM_177417.3(KLC3):c.1166A>G (p.Asn389Ser)	ERCC2, KLC3 (N389S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391029	NM_177417.3(KLC3):c.1298C>T (p.Ser433Phe)	ERCC2, KLC3 (S433F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335078	NM_177417.3(KLC3):c.1269A>C (p.Glu423Asp)	ERCC2, KLC3 (E423D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319181	NM_177417.3(KLC3):c.1147T>G (p.Ser383Ala)	ERCC2, KLC3 (S383A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220443	NM_177417.3(KLC3):c.1352G>A (p.Arg451Gln)	ERCC2, KLC3 (R451Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219577	NM_177417.3(KLC3):c.1307G>A (p.Arg436His)	ERCC2, KLC3 (R436H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1327087	NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg)	ERCC2 (G615R)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive	GUncertain significance
Select item 1322830	NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)	ERCC2 (Q562*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1319785	NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr)	ERCC2, KLC3 (A496T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319445	NM_000400.4(ERCC2):c.-12C>G	ERCC2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1319444	NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)	ERCC2 (L313fs +1 more)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1319437	NM_000400.4(ERCC2):c.1876G>A (p.Val626Ile)	ERCC2 (V626I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319431	NM_000400.4(ERCC2):c.5+39C>G	ERCC2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1319429	NM_000400.4(ERCC2):c.718+5G>T	ERCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319424	NM_000400.4(ERCC2):c.92C>T (p.Thr31Met)	ERCC2 (T31M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1209384	NM_000400.4(ERCC2):c.*119del	ERCC2, KLC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 893432	NM_000400.4(ERCC2):c.*137G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893431	NM_000400.4(ERCC2):c.*162G>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893430	NM_000400.4(ERCC2):c.*167C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892629	NM_000400.4(ERCC2):c.*181G>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892628	NM_000400.4(ERCC2):c.*216G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GLikely benign
Select item 892627	NM_000400.4(ERCC2):c.*224C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329499	NM_000400.4(ERCC2):c.*119C>G	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329498	NM_000400.4(ERCC2):c.*152T>C	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance

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