ClinVar for Gene (Select 2177) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356440	NM_001018115.3(FANCD2):c.1260A>T (p.Thr420=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3355088	NM_001018115.3(FANCD2):c.1089C>T (p.Ala363=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3346929	NC_000003.12:g.10060442G>A	FANCD2, LOC107303338 +1 more	Single nucleotide variant (intron variant)	VHL-related disorder	GLikely benign
Select item 3339218	NM_001018115.3(FANCD2):c.2048T>C (p.Leu683Pro)	FANCD2, LOC107303338 (L646P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338449	GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	ATP2B2, BRK1 +14 more	Copy number loss	Myoclonic-atonic epilepsy	GLikely pathogenic
Select item 3335890	NM_001018115.3(FANCD2):c.2404_2405dup (p.Gln802fs)	FANCD2, LOC107303338 (Q802fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3277663	NM_001018115.3(FANCD2):c.1901A>G (p.Glu634Gly)	FANCD2, LOC107303338 (E597G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277662	NM_001018115.3(FANCD2):c.3388T>C (p.Cys1130Arg)	FANCD2, FANCD2OS (C1093R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3277661	NM_001018115.3(FANCD2):c.2455A>T (p.Ile819Phe)	FANCD2, LOC107303338 (I819F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277660	NM_001018115.3(FANCD2):c.131A>G (p.Asn44Ser)	FANCD2, LOC107303338 (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251223	NM_001018115.3(FANCD2):c.922C>T (p.Gln308Ter)	FANCD2, LOC107303338 (Q308*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3246824	NC_000003.11:g.(?_10094051)_(10109021_?)dup	FANCD2	Duplication	Fanconi anemia	GLikely pathogenic
Select item 3246823	NC_000003.11:g.(?_10114535)_(10119901_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246822	NC_000003.11:g.(?_10114535)_(10115066_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246821	NC_000003.11:g.(?_10105456)_(10107198_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246820	NC_000003.11:g.(?_10070342)_(10109021_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246819	NC_000003.11:g.(?_10070342)_(10094201_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246817	NC_000003.11:g.(?_10070342)_(10085296_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246816	NC_000003.11:g.(?_10084223)_(10094201_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246815	NC_000003.11:g.(?_10083287)_(10085568_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246814	NC_000003.11:g.(?_10083287)_(10085296_?)del	FANCD2	Deletion	Fanconi anemia	GPathogenic
Select item 3246813	NC_000003.11:g.(?_10131956)_(10132089_?)del	FANCD2, FANCD2OS	Deletion	Fanconi anemia	GPathogenic
Select item 3246812	NC_000003.11:g.(?_10070342)_(10070425_?)del	FANCD2	Deletion	Fanconi anemia	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 3241580	NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)	FANCD2, FANCD2OS (Q1068* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241579	NM_001018115.3(FANCD2):c.2477del (p.Leu826fs)	FANCD2, LOC107303338 (L789fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241578	NM_001018115.3(FANCD2):c.990-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241577	NM_001018115.3(FANCD2):c.1042del (p.Asp348fs)	FANCD2, LOC107303338 (D348fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241576	NM_001018115.3(FANCD2):c.377+2T>C	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241575	NM_001018115.3(FANCD2):c.188_191del (p.Glu63fs)	FANCD2, LOC107303338 (E63fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241574	NM_001018115.3(FANCD2):c.2021+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241573	NM_001018115.3(FANCD2):c.268C>A (p.Pro90Thr)	FANCD2, LOC107303338 (P90T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 3241572	NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)	FANCD2, LOC107303338 (L153*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241571	NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)	FANCD2, FANCD2OS (Q1312* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241570	NM_001018115.3(FANCD2):c.1948-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241569	NM_001018115.3(FANCD2):c.695+2T>G	LOC107303338, FANCD2	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241568	NM_001018115.3(FANCD2):c.3335+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241567	NM_001018115.3(FANCD2):c.708dup (p.Glu237fs)	FANCD2, LOC107303338 (E237fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241566	NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)	FANCD2, FANCD2OS (Q1043* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241565	NM_001018115.3(FANCD2):c.2860-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241564	NM_001018115.3(FANCD2):c.2497dup (p.Thr833fs)	FANCD2, LOC107303338 (T796fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241563	NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)	FANCD2, LOC107303338 (Q415*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241562	NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)	FANCD2, LOC107303338 (S854* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241561	NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)	FANCD2, LOC107303338 (Y533* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3241560	NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)	FANCD2, FANCD2OS (R1281* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 3239409	NM_001018115.3(FANCD2):c.1635T>C (p.Asn545=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3092795	NM_001018115.3(FANCD2):c.3172A>G (p.Met1058Val)	FANCD2, FANCD2OS (M1021V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3092792	NM_001018115.3(FANCD2):c.1481A>G (p.Asp494Gly)	FANCD2, LOC107303338 (D494G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092791	NM_001018115.3(FANCD2):c.1014C>G (p.Ser338Arg)	FANCD2, LOC107303338 (S338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076009	NM_001018115.3(FANCD2):c.1278+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3067631	NM_001018115.3(FANCD2):c.3991T>C (p.Phe1331Leu)	FANCD2, FANCD2OS (F1294L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065349	NM_173472.2(FANCD2OS):c.*44-6935A>C	FANCD2, FANCD2OS (F1125V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3062665	GRCh37/hg19 3p25.3(chr3:10038458-10082917)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3062664	GRCh37/hg19 3p25.3(chr3:10036961-10082735)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3062663	GRCh37/hg19 3p25.3(chr3:10037166-10082917)x1	FANCD2	Copy number loss	not specified	GPathogenic
Select item 3059927	NM_001018115.3(FANCD2):c.1278+1del	FANCD2, LOC107303338	Deletion (splice donor variant)	FANCD2-related disorder	GBenign
Select item 3056224	NM_001018115.3(FANCD2):c.1948-19G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	FANCD2-related disorder	GLikely benign
Select item 3055184	NM_001018115.3(FANCD2):c.*10A>T	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	FANCD2-related disorder	GLikely benign
Select item 3053522	NM_173472.2(FANCD2OS):c.*44-7425C>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	FANCD2OS-related disorder	GLikely benign
Select item 3052034	NM_001018115.3(FANCD2):c.1872T>C (p.Ser624=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3043772	NM_001018115.3(FANCD2):c.2997T>C (p.Ile999=)	FANCD2	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3036320	NM_001018115.3(FANCD2):c.2988C>T (p.Ser996=)	FANCD2	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3030442	NM_001018115.3(FANCD2):c.1965C>T (p.Thr655=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	FANCD2-related disorder	GLikely benign
Select item 3027066	NM_001018115.3(FANCD2):c.3753T>C (p.Pro1251=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024017	NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)	FANCD2, LOC107303338 (H899Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3023611	NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)	FANCD2, LOC107303338 (Q586* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3023388	NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3022763	NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)	FANCD2, LOC107303338 (F161L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3021884	NM_001018115.3(FANCD2):c.888+10T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3021029	NM_001018115.3(FANCD2):c.696-7T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020160	NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)	FANCD2 (I1012fs +1 more)	Duplication (frameshift variant)	Fanconi anemia	GPathogenic
Select item 3019858	NM_001018115.3(FANCD2):c.4281+96T>C	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019813	NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3019808	NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019492	NM_001018115.3(FANCD2):c.1947+6G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3019191	NM_001018115.3(FANCD2):c.2860-5G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3018837	NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)	FANCD2, LOC107303338	Microsatellite (nonsense)	Fanconi anemia	GPathogenic
Select item 3017779	NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017505	NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017353	NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3016047	NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3015859	NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)	FANCD2, FANCD2OS (K1154E +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3014862	NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)	FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3014724	NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3014098	NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3014096	NM_001018115.3(FANCD2):c.438+9G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3013309	NM_001018115.3(FANCD2):c.3225-9C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3011638	NM_001018115.3(FANCD2):c.3106-15C>T	FANCD2OS, FANCD2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 3010434	NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009922	NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009629	NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 3009626	NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3006197	NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3005199	NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)	FANCD2, LOC107303338 (Q669* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3005169	NM_001018115.3(FANCD2):c.274-9C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3002791	NM_001018115.3(FANCD2):c.3849+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic

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