Related gene-specific medical variations for Gene (Select 7508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246998	NC_000003.11:g.(?_14211918)_(14214582_?)del	XPC	Deletion	not provided	GLikely pathogenic
Select item 3246997	NC_000003.11:g.(?_14188770)_(14189521_?)del	XPC	Deletion	not provided	GLikely pathogenic
Select item 3246996	NC_000003.11:g.(?_14206908)_(14207105_?)del	XPC	Deletion	not provided	GPathogenic
Select item 3240757	NM_004628.5(XPC):c.155C>G (p.Ser52Ter)	XPC (S46* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240756	NM_004628.5(XPC):c.2034-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240755	NM_004628.5(XPC):c.780-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240754	NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)	XPC (Q274* +2 more)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group C	GPathogenic
Select item 3240753	NM_004628.5(XPC):c.1067_1077del (p.Asn356fs)	XPC (N163fs +2 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240752	NM_004628.5(XPC):c.2605-2A>G	XPC	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240751	NM_004628.5(XPC):c.2432_2435dup (p.Val813fs)	XPC (V620fs +4 more)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240750	NM_004628.5(XPC):c.992del	XPC	Deletion (splice acceptor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240749	NM_004628.5(XPC):c.2153del (p.Arg718fs)	XPC (R525fs +4 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3240748	NM_004628.5(XPC):c.2115+1G>C	XPC	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum, group C	GLikely pathogenic
Select item 3239703	NM_004628.5(XPC):c.1769del (p.Met590fs)	XPC (M397fs +2 more)	Deletion (frameshift variant +2 more)	Xeroderma pigmentosum, group C	GLikely pathogenic
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 3063850	NM_004628.5(XPC):c.-1C>T	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2999808	NM_004628.5(XPC):c.99G>A (p.Glu33=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2990034	NM_004628.5(XPC):c.103+15C>T	LOC129936244, XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989137	NM_004628.5(XPC):c.103+11G>T	LOC129936244, XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898683	NM_004628.5(XPC):c.103+19G>A	LOC129936244, XPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2895860	NM_004628.5(XPC):c.13C>G (p.Arg5Gly)	LOC129936244, XPC (R5G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2852830	NM_004628.5(XPC):c.43G>T (p.Glu15Ter)	LOC129936244, XPC (E15*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2834709	NM_004628.5(XPC):c.69C>G (p.Ala23=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2813297	NM_004628.5(XPC):c.66G>A (p.Lys22=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2769624	NM_004628.5(XPC):c.94G>T (p.Glu32Ter)	LOC129936244, XPC (E32*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 2753793	NM_004628.5(XPC):c.93G>A (p.Glu31=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
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 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 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 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 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 2445342	NM_004628.5(XPC):c.1933C>G (p.Pro645Ala)	XPC (P452A +3 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GLikely pathogenic
Select item 2445293	NM_004628.5(XPC):c.2163G>T (p.Glu721Asp)	XPC (E528D +4 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2445259	NM_004628.5(XPC):c.332A>T (p.His111Leu)	XPC (H105L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Ovarian cancer	GBenign
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 2117771	NM_004628.5(XPC):c.7C>A (p.Arg3=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1999807	NM_004628.5(XPC):c.2T>A (p.Met1Lys)	LOC129936244, XPC (M1K)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 1994460	NM_004628.5(XPC):c.100G>T (p.Glu34Ter)	LOC129936244, XPC (E34*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1878422	NC_000003.11:g.14187530_(14190449_14193834)del	XPC	Deletion	Xeroderma pigmentosum	GLikely pathogenic
Select item 1710489	K822Q	XPC	Insertion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1692832	NM_004628.5(XPC):c.91G>A (p.Glu31Lys)	LOC129936244, XPC (E31K)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692831	NM_004628.5(XPC):c.8G>A (p.Arg3Gln)	LOC129936244, XPC (R3Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692818	NM_004628.5(XPC):c.15C>T (p.Arg5=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GLikely benign
Select item 1692817	NM_004628.5(XPC):c.10A>G (p.Lys4Glu)	LOC129936244, XPC (K4E)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1673710	NM_004628.5(XPC):c.90G>A (p.Glu30=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1667890	NM_004628.5(XPC):c.84G>A (p.Arg28=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1628954	NM_004628.5(XPC):c.15C>G (p.Arg5=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1624451	NM_004628.5(XPC):c.18G>A (p.Ala6=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1583003	NM_004628.5(XPC):c.48G>A (p.Leu16=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1576708	NM_004628.5(XPC):c.33G>A (p.Pro11=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1542561	NM_004628.5(XPC):c.103+8C>G	LOC129936244, XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539134	NM_004628.5(XPC):c.9G>T (p.Arg3=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1531147	NM_004628.5(XPC):c.87T>G (p.Arg29=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1403159	NM_004628.5(XPC):c.42_43dup (p.Glu15fs)	LOC129936244, XPC (E15fs)	Microsatellite (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1339875	GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1	XPC	Copy number loss	not provided	Gnot provided
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 1319097	NM_004628.5(XPC):c.1198G>A (p.Glu400Lys)	XPC (E207K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319096	NM_004628.5(XPC):c.1522A>G (p.Lys508Glu)	XPC (K315E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319095	NM_004628.5(XPC):c.1975A>G (p.Ile659Val)	XPC (I466V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319094	NM_004628.5(XPC):c.2311T>C (p.Cys771Arg)	XPC (C578R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319092	NM_004628.5(XPC):c.2512G>A (p.Glu838Lys)	XPC (E645K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319091	NM_004628.5(XPC):c.299+2T>G	XPC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1319089	NM_004628.5(XPC):c.85C>T (p.Arg29Cys)	LOC129936244, XPC (H29Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1201213	NM_004628.5(XPC):c.-22G>A	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1162048	NM_004628.5(XPC):c.21C>T (p.Ala7=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1154065	NM_004628.5(XPC):c.30G>A (p.Glu10=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1151856	NM_004628.5(XPC):c.12A>G (p.Lys4=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1143494	NM_004628.5(XPC):c.54C>T (p.Ser18=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1139089	NM_004628.5(XPC):c.42C>G (p.Arg14=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1128901	NM_004628.5(XPC):c.72G>A (p.Lys24=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1125837	NM_004628.5(XPC):c.82C>A (p.Arg28=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1116976	NM_004628.5(XPC):c.42C>T (p.Arg14=)	LOC129936244, XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1066146	NM_004628.5(XPC):c.2T>G (p.Met1Arg)	LOC129936244, XPC (M1R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 967922	NM_004628.5(XPC):c.2T>C (p.Met1Thr)	LOC129936244, XPC (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 903488	NM_004628.5(XPC):c.17C>G (p.Ala6Gly)	XPC, LOC129936244 (A6G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 809432	NM_004628.5(XPC):c.2021C>T (p.Ala674Val)	XPC (A481V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +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 555303	NM_004628.5(XPC):c.1A>T (p.Met1Leu)	LOC129936244, XPC (M1L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554399	NM_004628.5(XPC):c.103+2T>G	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 553460	NM_004628.5(XPC):c.103+1G>A	LOC129936244, XPC	Single nucleotide variant (intron variant +1 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic
Select item 551668	NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup)	LOC129936244, XPC	Microsatellite (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 551388	NM_004628.5(XPC):c.1A>G (p.Met1Val)	LOC129936244, XPC (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Xeroderma pigmentosum, group C +2 more	GConflicting classifications of pathogenicity
Select item 551359	NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	LOC129936244, XPC (Q19*)	Single nucleotide variant (5 prime UTR variant +2 more)	Xeroderma pigmentosum, group C +1 more	GPathogenic/Likely pathogenic

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