ClinVar for Gene (Select 7508) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351303	NM_004628.5(XPC):c.906C>T (p.Phe302=)	XPC	Single nucleotide variant (synonymous variant +1 more)	XPC-related disorder	GLikely benign
Select item 3342986	NM_004628.5(XPC):c.1552G>A (p.Glu518Lys)	XPC (E325K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3333469	NM_004628.5(XPC):c.1078C>A (p.Pro360Thr)	XPC (P360T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333468	NM_004628.5(XPC):c.335T>G (p.Leu112Arg)	XPC (L106R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3333467	NM_004628.5(XPC):c.2264A>T (p.Glu755Val)	XPC (E562V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	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 3234766	NM_004628.5(XPC):c.2247G>A (p.Gly749=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3191200	NM_004628.5(XPC):c.740G>A (p.Arg247Gln)	XPC (R241Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3191198	NM_004628.5(XPC):c.2528G>A (p.Arg843Gln)	XPC (R761Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191197	NM_004628.5(XPC):c.1928A>G (p.Asn643Ser)	XPC (N643S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191196	NM_004628.5(XPC):c.191G>A (p.Gly64Glu)	XPC (G64E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3191194	NM_004628.5(XPC):c.1391C>T (p.Pro464Leu)	XPC (P271L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3020738	NM_004628.5(XPC):c.2514+20T>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016762	NM_004628.5(XPC):c.412+14_412+17del	XPC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3015995	NM_004628.5(XPC):c.2676T>C (p.Ser892=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015231	NM_004628.5(XPC):c.2196G>A (p.Leu732=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013713	NM_004628.5(XPC):c.2116-15T>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013103	NM_004628.5(XPC):c.2515-15C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009820	NM_004628.5(XPC):c.779+7C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009754	NM_004628.5(XPC):c.901-17_901-16dup	XPC	Duplication (intron variant)	not provided	GLikely benign
Select item 3007795	NM_004628.5(XPC):c.2370T>C (p.Cys790=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007063	NM_004628.5(XPC):c.645A>C (p.Ala215=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006321	NM_004628.5(XPC):c.2543G>A (p.Trp848Ter)	XPC (W848* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3006227	NM_004628.5(XPC):c.2259G>C (p.Arg753=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004647	NM_004628.5(XPC):c.2601C>G (p.Pro867=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004206	NM_004628.5(XPC):c.1305G>C (p.Gly435=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003345	NM_004628.5(XPC):c.299+20T>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002307	NM_004628.5(XPC):c.990+18G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002120	NM_004628.5(XPC):c.2754T>C (p.Gly918=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002042	NM_004628.5(XPC):c.2605-4C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000210	NM_004628.5(XPC):c.135G>A (p.Lys45=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2999838	NM_004628.5(XPC):c.1773A>T (p.Thr591=)	XPC	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2998296	NM_004628.5(XPC):c.882T>C (p.Asp294=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998099	NM_004628.5(XPC):c.813_814del (p.Ala273fs)	XPC (A80fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2996476	NM_004628.5(XPC):c.2420+14C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991735	NM_004628.5(XPC):c.2604+9A>G	XPC	Single nucleotide variant (intron variant)	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 2989841	NM_004628.5(XPC):c.165G>A (p.Lys55=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2989710	NM_004628.5(XPC):c.1710G>A (p.Val570=)	XPC	Single nucleotide variant (synonymous variant +2 more)	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 2988116	NM_004628.5(XPC):c.2033+15C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987980	NM_004628.5(XPC):c.2116-21_2116-19del	XPC	Deletion (intron variant)	not provided	GLikely benign
Select item 2987367	NM_004628.5(XPC):c.564A>G (p.Thr188=)	XPC	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2980600	NM_004628.5(XPC):c.622-10C>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976859	NM_004628.5(XPC):c.780-14T>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976142	NM_004628.5(XPC):c.180C>T (p.Cys60=)	XPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2975271	NM_004628.5(XPC):c.780-13G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973207	NM_004628.5(XPC):c.2283C>T (p.Leu761=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973009	NM_004628.5(XPC):c.2439C>T (p.Val813=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972013	NM_004628.5(XPC):c.1032A>T (p.Gly344=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971955	NM_004628.5(XPC):c.990+12A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971373	NM_004628.5(XPC):c.2250+19G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971201	NM_004628.5(XPC):c.622-19C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970984	NM_004628.5(XPC):c.1872+16C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969334	NM_004628.5(XPC):c.104-14G>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966508	NM_004628.5(XPC):c.2421-18C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964002	NM_004628.5(XPC):c.413-11C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961202	NM_004628.5(XPC):c.2251-8C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961062	NM_004628.5(XPC):c.2142T>C (p.Ala714=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959682	NM_004628.5(XPC):c.622-10C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959080	NM_004628.5(XPC):c.1005C>T (p.Ser335=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920282	NM_004628.5(XPC):c.537-11A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918211	NM_004628.5(XPC):c.2605-20C>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918110	NM_004628.5(XPC):c.2420+17C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915588	NM_004628.5(XPC):c.2116-17C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914728	NM_004628.5(XPC):c.2604+20A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914393	NM_004628.5(XPC):c.299+18C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914118	NM_004628.5(XPC):c.2250+15A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913729	NM_004628.5(XPC):c.2421-15G>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913052	NM_004628.5(XPC):c.900+15del	XPC	Deletion (intron variant)	not provided	GLikely benign
Select item 2912597	NM_004628.5(XPC):c.2605-17C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912506	NM_004628.5(XPC):c.2421-17G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911300	NM_004628.5(XPC):c.2421-20A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910732	NM_004628.5(XPC):c.2515-14A>G	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908120	NM_004628.5(XPC):c.2420+14C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907938	NM_004628.5(XPC):c.1873-15G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906615	NM_004628.5(XPC):c.1767G>A (p.Trp589Ter)	XPC (W396* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2906156	NM_004628.5(XPC):c.2493C>A (p.Val831=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905073	NM_004628.5(XPC):c.2116-16G>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904739	NM_004628.5(XPC):c.2604+11G>C	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903502	NM_004628.5(XPC):c.2605-18C>T	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902560	NM_004628.5(XPC):c.299+17G>A	XPC	Single nucleotide variant (intron variant)	not provided	GLikely benign

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