ClinVar for Gene (Select 2068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3231727	NM_000400.4(ERCC2):c.992G>A (p.Gly331Asp)	ERCC2 (G307D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231726	NM_000400.4(ERCC2):c.982C>G (p.His328Asp)	ERCC2 (H304D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231725	NM_000400.4(ERCC2):c.981G>C (p.Glu327Asp)	ERCC2 (E303D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231724	NM_000400.4(ERCC2):c.965C>G (p.Ser322Cys)	ERCC2 (S298C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231723	NM_000400.4(ERCC2):c.962G>A (p.Gly321Asp)	ERCC2 (G297D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231722	NM_000400.4(ERCC2):c.955G>A (p.Val319Met)	ERCC2 (V295M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231721	NM_000400.4(ERCC2):c.945G>T (p.Leu315=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231720	NM_000400.4(ERCC2):c.928C>G (p.Leu310Val)	ERCC2 (L286V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231719	NM_000400.4(ERCC2):c.884C>T (p.Ala295Val)	ERCC2 (A271V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231718	NM_000400.4(ERCC2):c.857G>C (p.Arg286Pro)	ERCC2 (R262P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231717	NM_000400.4(ERCC2):c.854A>C (p.Tyr285Ser)	ERCC2 (Y261S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231716	NM_000400.4(ERCC2):c.848A>C (p.Asp283Ala)	ERCC2 (D259A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231715	NM_000400.4(ERCC2):c.845G>C (p.Arg282Pro)	ERCC2 (R258P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231714	NM_000400.4(ERCC2):c.842T>A (p.Leu281Gln)	ERCC2 (L257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231713	NM_000400.4(ERCC2):c.770A>T (p.Asp257Val)	ERCC2 (D233V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231712	NM_000400.4(ERCC2):c.745G>T (p.Val249Phe)	ERCC2 (V225F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231711	NM_000400.4(ERCC2):c.720C>T (p.Asp240=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231710	NM_000400.4(ERCC2):c.6G>A (p.Lys2=)	ERCC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3231707	NM_000400.4(ERCC2):c.656A>T (p.Asp219Val)	ERCC2 (D195V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231706	NM_000400.4(ERCC2):c.656A>G (p.Asp219Gly)	ERCC2 (D195G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231705	NM_000400.4(ERCC2):c.646A>G (p.Lys216Glu)	ERCC2 (K192E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231704	NM_000400.4(ERCC2):c.536A>G (p.Asp179Gly)	ERCC2 (D155G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231703	NM_000400.4(ERCC2):c.51C>T (p.Ile17=)	ERCC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3231702	NM_000400.4(ERCC2):c.51C>G (p.Ile17Met)	ERCC2 (I17M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3231701	NM_000400.4(ERCC2):c.519C>T (p.Gly173=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231700	NM_000400.4(ERCC2):c.517G>A (p.Gly173Ser)	ERCC2 (G149S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231699	NM_000400.4(ERCC2):c.44A>T (p.Asp15Val)	ERCC2 (D15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3231698	NM_000400.4(ERCC2):c.434A>G (p.Gln145Arg)	ERCC2 (Q121R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231697	NM_000400.4(ERCC2):c.432G>T (p.Ala144=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231696	NM_000400.4(ERCC2):c.413C>T (p.Thr138Ile)	ERCC2 (T114I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231695	NM_000400.4(ERCC2):c.379G>T (p.Gly127Trp)	ERCC2 (G103W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231694	NM_000400.4(ERCC2):c.354C>G (p.His118Gln)	ERCC2 (H118Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231693	NM_000400.4(ERCC2):c.328A>G (p.Ser110Gly)	ERCC2 (S110G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231692	NM_000400.4(ERCC2):c.323C>T (p.Ala108Val)	ERCC2 (A108V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231691	NM_000400.4(ERCC2):c.317G>A (p.Gly106Glu)	ERCC2 (G106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231690	NM_000400.4(ERCC2):c.282T>C (p.Tyr94=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231689	NM_000400.4(ERCC2):c.272T>A (p.Leu91His)	ERCC2 (L67H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231688	NM_000400.4(ERCC2):c.2258T>C (p.Ile753Thr)	ERCC2 (I753T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231687	NM_000400.4(ERCC2):c.2244G>A (p.Glu748=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231686	NM_000400.4(ERCC2):c.2238A>G (p.Ser746=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231685	NM_000400.4(ERCC2):c.2236T>G (p.Ser746Ala)	ERCC2 (S746A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231684	NM_000400.4(ERCC2):c.2232A>T (p.Leu744=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231683	NM_000400.4(ERCC2):c.2229G>C (p.Gln743His)	ERCC2 (Q743H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231682	NM_000400.4(ERCC2):c.2218A>C (p.Ser740Arg)	ERCC2 (S740R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231681	NM_000400.4(ERCC2):c.2209T>A (p.Ser737Thr)	ERCC2 (S737T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231680	NM_000400.4(ERCC2):c.2196T>G (p.Asp732Glu)	ERCC2 (D732E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231679	NM_000400.4(ERCC2):c.2181C>T (p.Pro727=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231678	NM_000400.4(ERCC2):c.2178G>C (p.Gln726His)	ERCC2 (Q726H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231677	NM_000400.4(ERCC2):c.2152A>G (p.Lys718Glu)	ERCC2 (K718E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231676	NM_000400.4(ERCC2):c.2137G>A (p.Gly713Ser)	ERCC2 (G713S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231675	NM_000400.4(ERCC2):c.2132A>T (p.Asp711Val)	ERCC2 (D711V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231674	NM_000400.4(ERCC2):c.2126C>T (p.Thr709Ile)	ERCC2 (T709I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231673	NM_000400.4(ERCC2):c.2113A>G (p.Asn705Asp)	ERCC2 (N705D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231671	NM_000400.4(ERCC2):c.2035T>C (p.Phe679Leu)	ERCC2 (F679L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231670	NM_000400.4(ERCC2):c.2028C>T (p.Leu676=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231669	NM_000400.4(ERCC2):c.2000C>T (p.Ala667Val)	ERCC2 (A667V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231668	NM_000400.4(ERCC2):c.1984C>G (p.Gln662Glu)	ERCC2 (Q662E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231667	NM_000400.4(ERCC2):c.189T>C (p.Tyr63=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231666	NM_000400.4(ERCC2):c.1899C>T (p.Leu633=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231665	NM_000400.4(ERCC2):c.1871C>T (p.Pro624Leu)	ERCC2 (P624L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231664	NM_000400.4(ERCC2):c.186A>G (p.Ala62=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231663	NM_000400.4(ERCC2):c.1850C>T (p.Ala617Val)	ERCC2 (A617V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231662	NM_000400.4(ERCC2):c.1834C>T (p.His612Tyr)	ERCC2 (H612Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231661	NM_000400.4(ERCC2):c.182G>A (p.Arg61Lys)	ERCC2 (R37K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231660	NM_000400.4(ERCC2):c.1797G>A (p.Val599=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231659	NM_000400.4(ERCC2):c.1791G>A (p.Leu597=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231658	NM_000400.4(ERCC2):c.1776C>A (p.Arg592=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231657	NM_000400.4(ERCC2):c.1763G>T (p.Cys588Phe)	ERCC2 (C588F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231656	NM_000400.4(ERCC2):c.1750T>C (p.Tyr584His)	ERCC2 (Y584H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231655	NM_000400.4(ERCC2):c.1735G>A (p.Val579Ile)	ERCC2 (V579I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231654	NM_000400.4(ERCC2):c.1704T>A (p.Phe568Leu)	ERCC2 (F568L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231653	NM_000400.4(ERCC2):c.1598A>C (p.Asp533Ala)	ERCC2 (D533A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231652	NM_000400.4(ERCC2):c.1595C>T (p.Pro532Leu)	ERCC2 (P532L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231651	NM_000400.4(ERCC2):c.1584C>G (p.Ser528=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231650	NM_000400.4(ERCC2):c.1533G>A (p.Arg511=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231649	NM_000400.4(ERCC2):c.1503G>C (p.Gln501His)	ERCC2 (Q501H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231648	NM_000400.4(ERCC2):c.1494C>A (p.Gly498=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231647	NM_000400.4(ERCC2):c.1487G>C (p.Gly496Ala)	ERCC2 (G496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231646	NM_000400.4(ERCC2):c.1475C>G (p.Pro492Arg)	ERCC2 (P492R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231645	NM_000400.4(ERCC2):c.1467C>G (p.Cys489Trp)	ERCC2 (C489W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231644	NM_000400.4(ERCC2):c.1466G>C (p.Cys489Ser)	ERCC2 (C489S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231643	NM_000400.4(ERCC2):c.1446C>T (p.Thr482=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231641	NM_000400.4(ERCC2):c.1435G>A (p.Ala479Thr)	ERCC2 (A479T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231640	NM_000400.4(ERCC2):c.1425C>G (p.Pro475=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231639	NM_000400.4(ERCC2):c.1423C>G (p.Pro475Ala)	ERCC2 (P475A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231638	NM_000400.4(ERCC2):c.1422C>A (p.His474Gln)	ERCC2 (H474Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231637	NM_000400.4(ERCC2):c.1407G>T (p.Lys469Asn)	ERCC2 (K469N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231636	NM_000400.4(ERCC2):c.138C>A (p.Thr46=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231635	NM_000400.4(ERCC2):c.1324C>A (p.Leu442Met)	ERCC2 (L442M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231634	NM_000400.4(ERCC2):c.1323G>C (p.Ser441=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231633	NM_000400.4(ERCC2):c.1316A>G (p.Asp439Gly)	ERCC2 (D439G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231632	NM_000400.4(ERCC2):c.1313T>C (p.Met438Thr)	ERCC2 (M438T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231631	NM_000400.4(ERCC2):c.1301A>G (p.His434Arg)	ERCC2 (H434R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231630	NM_000400.4(ERCC2):c.1297C>G (p.Leu433Val)	ERCC2 (L433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231629	NM_000400.4(ERCC2):c.1296C>T (p.Ile432=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231628	NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met)	ERCC2 (I416M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231627	NM_000400.4(ERCC2):c.122A>G (p.Glu41Gly)	ERCC2 (E17G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231626	NM_000400.4(ERCC2):c.1223G>A (p.Ser408Asn)	ERCC2 (S384N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231625	NM_000400.4(ERCC2):c.1214C>T (p.Thr405Ile)	ERCC2 (T381I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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