ClinVar for Gene (Select 2176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075899	NM_000136.3(FANCC):c.34del (p.Tyr12fs)	FANCC (Y12fs)	Deletion (frameshift variant)	Fanconi anemia	GLikely pathogenic
Select item 3063108	GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1	AOPEP, BARX1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3040319	NM_000136.3(FANCC):c.1329+126T>C	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related condition	GLikely benign
Select item 3036969	NM_000136.3(FANCC):c.1329+198G>T	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related condition	GLikely benign
Select item 3031534	NM_000136.3(FANCC):c.1329+144G>A	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related condition	GLikely benign
Select item 3029526	NM_000136.3(FANCC):c.1329+207C>T	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related condition	GLikely benign
Select item 3018787	NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)	AOPEP, FANCC (Q410*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3017501	NM_000136.3(FANCC):c.843+16T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3015737	NM_000136.3(FANCC):c.897-12T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3014841	NM_000136.3(FANCC):c.686+17T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3014431	NM_000136.3(FANCC):c.117T>G (p.Ala39=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009835	NM_000136.3(FANCC):c.753A>G (p.Glu251=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009822	NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)	AOPEP, FANCC (G385E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3007609	NM_000136.3(FANCC):c.165+1G>A	FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia	GPathogenic
Select item 3005475	NM_000136.3(FANCC):c.165+5G>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2999106	NM_000136.3(FANCC):c.897-11G>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2997502	NM_000136.3(FANCC):c.844-15C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2996768	NM_000136.3(FANCC):c.996+8dup	AOPEP, FANCC	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2993650	NM_000136.3(FANCC):c.78C>T (p.Ser26=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2992011	NM_000136.3(FANCC):c.165+18A>C	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2975200	NM_000136.3(FANCC):c.1329+16C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2974563	NM_000136.3(FANCC):c.1073-9C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2969158	NM_000136.3(FANCC):c.687-15A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2968052	NM_000136.3(FANCC):c.844-18G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2959622	NM_000136.3(FANCC):c.1154+12C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2915126	NM_000136.3(FANCC):c.1329+18C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2913031	NM_000136.3(FANCC):c.1330-13T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2910228	NM_000136.3(FANCC):c.844-1G>A	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 2909967	NM_000136.3(FANCC):c.1473C>T (p.Leu491=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2909897	NM_000136.3(FANCC):c.1395G>A (p.Gln465=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2908597	NM_000136.3(FANCC):c.346-7T>A	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2900078	NM_000136.3(FANCC):c.997-14C>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2899893	NM_000136.3(FANCC):c.1533+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia	GPathogenic
Select item 2899484	NM_000136.3(FANCC):c.1155-12C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2898970	NM_000136.3(FANCC):c.387A>G (p.Lys129=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2898775	NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)	FANCC, AOPEP (L333fs)	Microsatellite (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2894360	NM_000136.3(FANCC):c.166-20A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2893634	NM_000136.3(FANCC):c.547C>G (p.Leu183Val)	AOPEP, FANCC (L183V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2889870	NM_000136.3(FANCC):c.456+16T>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2889270	NM_000136.3(FANCC):c.1578T>A (p.Leu526=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2889201	NM_000136.3(FANCC):c.707T>C (p.Met236Thr)	AOPEP, FANCC (M236T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2882575	NM_000136.3(FANCC):c.687-16T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2882453	NM_000136.3(FANCC):c.521+15A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2879638	NM_000136.3(FANCC):c.162G>A (p.Glu54=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2879592	NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)	FANCC (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2877392	NM_000136.3(FANCC):c.686+13T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2875687	NM_000136.3(FANCC):c.996+11T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2874725	NM_000136.3(FANCC):c.250+8T>A	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2874674	NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)	AOPEP, FANCC (L229R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2867916	NM_000136.3(FANCC):c.804T>C (p.Cys268=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2867734	NM_000136.3(FANCC):c.1073-6C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2867147	NM_000136.3(FANCC):c.-8T>C	FANCC	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia	GUncertain significance
Select item 2864885	NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)	FANCC (Q115*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2858098	NM_000136.3(FANCC):c.687-17T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2856842	NM_000136.3(FANCC):c.15A>T (p.Ser5=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2856093	NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)	AOPEP, FANCC (N493S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2855835	NM_000136.3(FANCC):c.687-6T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2853996	NM_000136.3(FANCC):c.687-14T>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2851176	NM_000136.3(FANCC):c.1154+11A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2851105	NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)	AOPEP, FANCC (W424G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2849724	NM_000136.3(FANCC):c.612del (p.Ile205fs)	AOPEP, FANCC (I205fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2848142	NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)	FANCC (C95*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2845059	NM_000136.3(FANCC):c.1101A>C (p.Thr367=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2843231	NM_000136.3(FANCC):c.76dup (p.Ser26fs)	FANCC (S26fs)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2842000	NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)	AOPEP, FANCC (N267fs)	Microsatellite (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2835229	NM_000136.3(FANCC):c.996+18T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2833589	NM_000136.3(FANCC):c.165+14C>A	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2832023	NM_000136.3(FANCC):c.303A>G (p.Glu101=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2831645	NM_000136.3(FANCC):c.996+8A>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2828213	NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)	FANCC, AOPEP (R266K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2827323	NM_000136.3(FANCC):c.1330-7T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2826280	NM_000136.3(FANCC):c.1154+19C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2821392	NM_000136.3(FANCC):c.1533+17T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2820200	NM_000136.3(FANCC):c.521+14T>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2817803	NM_000136.3(FANCC):c.975T>C (p.Ala325=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2813051	NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)	AOPEP, FANCC (L496F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2811720	NM_000136.3(FANCC):c.165+17A>C	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2810639	NM_000136.3(FANCC):c.-78-3C>A	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2809579	NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)	AOPEP, FANCC (E517fs)	Microsatellite (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2807053	NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)	AOPEP, FANCC (A308T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2806155	NM_000136.3(FANCC):c.687-12T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2803624	NM_000136.3(FANCC):c.1329+16del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia	GBenign
Select item 2802472	NM_000136.3(FANCC):c.1563dup (p.Ile522fs)	AOPEP, FANCC (I522fs)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2801390	NM_000136.3(FANCC):c.711A>G (p.Ser237=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2801357	NM_000136.3(FANCC):c.651A>G (p.Pro217=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2801226	NM_000136.3(FANCC):c.457-17C>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2798776	NM_000136.3(FANCC):c.997-5G>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2798709	NM_000136.3(FANCC):c.165+15A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2795166	NM_000136.3(FANCC):c.844-20A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2790651	NM_000136.3(FANCC):c.251-2A>T	FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GPathogenic
Select item 2790305	NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)	AOPEP, FANCC (I214N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2788546	NM_000136.3(FANCC):c.474G>C (p.Ala158=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2785117	NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)	AOPEP, FANCC (I276T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2784109	NM_000136.3(FANCC):c.1534-13G>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2780612	NM_000136.3(FANCC):c.897-20T>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2772495	NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)	AOPEP, FANCC (W403*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2769235	NM_000136.3(FANCC):c.456+12A>C	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2766260	NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)	AOPEP, FANCC (G537C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2765166	NM_000136.3(FANCC):c.1155-18G>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign

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