ClinVar for MedGen (Select 416702) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064424	NM_004628.5(XPC):c.856A>T (p.Arg286Ter)	XPC (R280* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679656	NM_004628.5(XPC):c.2421_2440del20 (p.Thr808fs)	XPC (T615fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679655	NM_004628.5(XPC):c.1939_1942del (p.Tyr647fs)	XPC (Y454fs +3 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679654	NM_004628.5(XPC):c.1420C>T (p.Gln474Ter)	XPC (Q281* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 2679653	NM_004628.5(XPC):c.673_692dup (p.Ile232fs)	XPC (I226fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679652	NM_004628.5(XPC):c.1752_1756del (p.Tyr585fs)	XPC (Y392fs +2 more)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679651	NM_004628.5(XPC):c.977C>G (p.Ser326Ter)	XPC (S133* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679650	NM_004628.5(XPC):c.2047_2048del (p.Thr683fs)	XPC (T490fs +4 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 2679649	NM_004628.5(XPC):c.1798dup (p.Ala600fs)	XPC (A407fs +2 more)	Duplication (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679648	NM_004628.5(XPC):c.2421-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679647	NM_004628.5(XPC):c.362del (p.Asp121fs)	XPC (D115fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 2679646	NM_004628.5(XPC):c.621+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679645	NM_004628.5(XPC):c.2301del (p.Met767fs)	XPC (M574fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679644	NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)	XPC (W338* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679643	NM_004628.5(XPC):c.1288dup (p.Tyr430fs)	XPC (Y237fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679642	NM_004628.5(XPC):c.2176_2192del (p.Glu726fs)	XPC (E533fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 2679641	NM_004628.5(XPC):c.385dup (p.Ser129fs)	XPC (S123fs +1 more)	Duplication (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679640	NM_004628.5(XPC):c.1102C>T (p.Gln368Ter)	XPC (Q175* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679639	NM_004628.5(XPC):c.1336G>T (p.Glu446Ter)	XPC (E253* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679638	NM_004628.5(XPC):c.861dup (p.Ala288fs)	XPC (A282fs +2 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679637	NM_004628.5(XPC):c.2552dup (p.Ala852fs)	XPC (A659fs +4 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2679636	NM_004628.5(XPC):c.2515A>T (p.Lys839Ter)	XPC (K646* +4 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2581665	NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)	XPC (Y392C +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 2581102	NM_004628.5(XPC):c.218_219insT (p.Lys73fs)	XPC (K67fs +1 more)	Insertion (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 2438627	NM_004628.5(XPC):c.806C>G (p.Ala269Gly)	XPC (A263G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2438626	NM_004628.5(XPC):c.1246C>T (p.Arg416Cys)	XPC (R223C +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2431732	NM_004628.5(XPC):c.1969G>T (p.Glu657Ter)	XPC (E464* +3 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 2431722	NM_004628.5(XPC):c.919C>T (p.Arg307Trp)	XPC (R114W +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 2139390	NM_004628.5(XPC):c.525_526del (p.Glu177fs)	XPC (E171fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1939311	NM_004628.5(XPC):c.1872+1G>A	XPC	Single nucleotide variant (splice donor variant +1 more)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 1692825	NM_004628.5(XPC):c.259G>C (p.Val87Leu)	XPC (V81L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1692821	NM_004628.5(XPC):c.205G>C (p.Gly69Arg)	XPC (G63R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 1685476	NM_004628.5(XPC):c.749A>G (p.Asp250Gly)	XPC (D244G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 1684238	NM_004628.5(XPC):c.1897C>T (p.Pro633Ser)	XPC (P440S +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GBenign
Select item 1454617	NM_004628.5(XPC):c.2010T>A (p.Cys670Ter)	XPC (C477* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1342722	NM_004628.5(XPC):c.2250+1G>A	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C	GPathogenic
Select item 1341339	NM_004628.5(XPC):c.2525A>G (p.Lys842Arg)	XPC (K649R +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 1327098	NM_004628.5(XPC):c.1455G>T (p.Arg485Ser)	XPC (R292S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 1163244	NM_004628.5(XPC):c.26G>T (p.Gly9Val)	LOC129936244, XPC (G9V)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 1073314	NM_004628.5(XPC):c.1266del (p.Arg423fs)	XPC (R230fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072652	NM_004628.5(XPC):c.2050_2051del (p.Leu684fs)	XPC (L491fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 998250	NM_004628.5(XPC):c.728G>A (p.Arg243Lys)	XPC (R237K +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 997551	NM_004628.5(XPC):c.1946T>C (p.Leu649Pro)	XPC (L456P +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 997481	NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)	XPC (R185K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Xeroderma pigmentosum, group C +3 more	GConflicting classifications of pathogenicity
Select item 963704	NM_004628.5(XPC):c.2420+2T>C	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 959809	NM_004628.5(XPC):c.104-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C +1 more	GLikely pathogenic
Select item 944047	NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter)	XPC (Y553* +2 more)	Single nucleotide variant (nonsense +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic
Select item 916577	NM_004628.5(XPC):c.2127del (p.Ser711fs)	XPC (S711fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 916576	NM_004628.5(XPC):c.395_398del (p.Asp132fs)	XPC (D126fs +1 more)	Deletion (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 916575	NM_004628.5(XPC):c.524_525dup (p.Arg176fs)	XPC (R176fs +1 more)	Duplication (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 903489	NM_004628.4(XPC):c.-82C>G	LOC129936244, XPC	Single nucleotide variant	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903488	NM_004628.5(XPC):c.17C>G (p.Ala6Gly)	LOC129936244, XPC (A6G)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 903436	NM_004628.5(XPC):c.392A>C (p.Asn131Thr)	XPC (N125T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903435	NM_004628.5(XPC):c.393T>C (p.Asn131=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903434	NM_004628.5(XPC):c.536+11G>T	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903381	NM_004628.5(XPC):c.1634T>C (p.Val545Ala)	XPC (V352A +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 903380	NM_004628.5(XPC):c.1781G>A (p.Arg594His)	XPC (R594H +2 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 903309	NM_004628.5(XPC):c.2514+6C>T	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 903308	NM_004628.5(XPC):c.2596G>A (p.Gly866Arg)	XPC (G860R +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902591	NM_004628.5(XPC):c.574A>G (p.Arg192Gly)	XPC (R192G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 902590	NM_004628.5(XPC):c.779+11C>T	XPC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902589	NM_004628.5(XPC):c.779+12C>G	XPC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902588	NM_004628.5(XPC):c.940C>T (p.Arg314Trp)	XPC (R121W +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902531	NM_004628.5(XPC):c.1913T>C (p.Ile638Thr)	XPC (I445T +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 902530	NM_004628.5(XPC):c.1942G>T (p.Ala648Ser)	XPC (A566S +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902529	NM_004628.5(XPC):c.1947G>A (p.Leu649=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902528	NM_004628.5(XPC):c.2020G>T (p.Ala674Ser)	XPC (A674S +3 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 902445	NM_004628.5(XPC):c.*139G>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900926	NM_004628.5(XPC):c.1022C>T (p.Ala341Val)	XPC (A148V +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 900925	NM_004628.5(XPC):c.1023G>A (p.Ala341=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900924	NM_004628.5(XPC):c.1246C>G (p.Arg416Gly)	XPC (R223G +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900852	NM_004628.5(XPC):c.2137C>T (p.Arg713Cys)	XPC (R711C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900851	NM_004628.5(XPC):c.2174G>A (p.Arg725Gln)	XPC (R532Q +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900779	NM_004628.5(XPC):c.*611T>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900778	NM_004628.5(XPC):c.*624A>C	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900777	NM_004628.5(XPC):c.*648C>T	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 900776	NM_004628.5(XPC):c.*682A>G	XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 899876	NM_004628.4(XPC):c.-84C>T	LOC129936244, XPC	Single nucleotide variant	Xeroderma pigmentosum, group C	GUncertain significance
Select item 899822	NM_004628.5(XPC):c.105T>A (p.Asp35Glu)	XPC (D35E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 899766	NM_004628.5(XPC):c.1474C>A (p.Arg492Ser)	XPC (R486S +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 899765	NM_004628.5(XPC):c.1531A>C (p.Lys511Gln)	XPC (K511Q +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +1 more	GUncertain significance
Select item 899705	NM_004628.5(XPC):c.2251-7G>A	XPC	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 899704	NM_004628.5(XPC):c.2351G>A (p.Arg784His)	XPC (R782H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 899703	NM_004628.5(XPC):c.2412C>T (p.Ser804=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899702	NM_004628.5(XPC):c.2418C>A (p.Pro806=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 836224	NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	XPC (E546fs +4 more)	Microsatellite (frameshift variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 804433	NM_004628.5(XPC):c.470_471del (p.Leu157fs)	XPC (L151fs +1 more)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 801938	NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)	LOC129936244, XPC (E34del)	Microsatellite (5 prime UTR variant +3 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 801937	NM_004628.5(XPC):c.706A>G (p.Ile236Val)	XPC (I230V +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C	GUncertain significance
Select item 797284	NM_004628.5(XPC):c.1365C>T (p.Pro455=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 785035	NM_004628.5(XPC):c.1497G>A (p.Ala499=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 762370	NM_004628.5(XPC):c.203A>T (p.Asp68Val)	XPC (D68V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 756305	NM_004628.5(XPC):c.1509C>T (p.Ser503=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 738187	NM_004628.5(XPC):c.2250+6G>A	XPC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 731076	NM_004628.5(XPC):c.2238C>T (p.Ala746=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 721485	NM_004628.5(XPC):c.102G>A (p.Glu34=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum, group C +1 more	GConflicting classifications of pathogenicity
Select item 720863	NM_004628.5(XPC):c.1734C>A (p.Val578=)	XPC	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum, group C +1 more	GBenign
Select item 712980	NM_004628.5(XPC):c.2028C>T (p.Tyr676=)	XPC	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group C +3 more	GBenign
Select item 712680	NM_004628.5(XPC):c.2496T>C (p.Ile832=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 695695	NM_004628.5(XPC):c.303C>T (p.Asp101=)	XPC	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum, group C +1 more	GBenign

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