ClinVar for MedGen (Select 463627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690599	NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)	FANCD2, LOC107303338 (E890* +1 more)	Indel (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675531	NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)	FANCD2, LOC107303338 (P526fs)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675530	NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)	FANCD2, LOC107303338 (Q681* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675529	NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)	FANCD2, LOC107303338	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675528	NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)	FANCD2, LOC107303338 (R530*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675527	NM_001018115.3(FANCD2):c.378-1G>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675526	NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)	FANCD2, FANCD2OS (Y1230fs +1 more)	Microsatellite (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675525	NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)	FANCD2, LOC107303338 (Q440*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675524	NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)	FANCD2, FANCD2OS (K1062fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 2675523	NM_001018115.3(FANCD2):c.389del (p.Ser130fs)	FANCD2, LOC107303338 (S130fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675522	NM_001018115.3(FANCD2):c.1135-1G>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675521	NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)	FANCD2, LOC107303338 (Q76fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675520	NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)	FANCD2, FANCD2OS (N1048fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675519	NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)	FANCD2, LOC107303338 (Q470*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675518	NM_001018115.3(FANCD2):c.3889-2A>G	FANCD2, FANCD2OS	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675517	NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)	FANCD2, LOC107303338 (Q525* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675515	NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)	FANCD2, LOC107303338 (Q560fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675514	NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675513	NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)	FANCD2, LOC107303338 (Y647* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675512	NM_001018115.3(FANCD2):c.3466+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675511	NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)	FANCD2, LOC107303338 (E585* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675510	NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)	FANCD2, LOC107303338 (D221fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675509	NM_001018115.3(FANCD2):c.1545+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675508	NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)	FANCD2, LOC107303338 (L612fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675506	NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)	FANCD2, LOC107303338 (Q589* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675505	NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)	FANCD2, LOC107303338 (C856fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675504	NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)	FANCD2, LOC107303338 (R174*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675503	NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)	FANCD2, LOC107303338 (T877fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675502	NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)	FANCD2, LOC107303338 (Q65*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675501	NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)	FANCD2, LOC107303338 (S352fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675499	NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)	FANCD2, LOC107303338 (K836fs +1 more)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675498	NM_001018115.3(FANCD2):c.1279-2A>C	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675497	NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Duplication (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675496	NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)	FANCD2, FANCD2OS (L1330* +2 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675495	NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)	FANCD2, LOC107303338 (I282fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675493	NM_033084.6(FANCD2):c.3107_3108del	FANCD2, FANCD2OS	Microsatellite (splice acceptor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675492	NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)	FANCD2, FANCD2OS (W1038* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675491	NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)	FANCD2, FANCD2OS (G1064fs +1 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675490	NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)	FANCD2, FANCD2OS (L1327fs +2 more)	Deletion (frameshift variant +1 more)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675489	NM_033084.6(FANCD2):c.2609_2613del	FANCD2, LOC107303338	Deletion (splice acceptor variant)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 2675488	NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)	FANCD2, LOC107303338 (Y103*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675486	NM_001018115.3(FANCD2):c.667del (p.Gln223fs)	FANCD2, LOC107303338 (Q223fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675485	NM_001018115.3(FANCD2):c.65-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675484	NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)	FANCD2, LOC107303338 (T837fs +1 more)	Duplication (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675483	NM_001018115.3(FANCD2):c.4186-2A>G	FANCD2, FANCD2OS	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 2675482	NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)	FANCD2, LOC107303338 (R889* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +2 more	GPathogenic/Likely pathogenic
Select item 2663985	NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)	FANCD2, LOC107303338 (R408L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2500027	NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)	FANCD2, LOC107303338 (L725V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2441346	NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)	FANCD2, LOC107303338 (G540S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2441345	NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)	FANCD2, LOC107303338 (S542N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 2041518	NM_001018115.3(FANCD2):c.3560+1G>A	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1806328	NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)	FANCD2, LOC107303338 (C746F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1708505	NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)	FANCD2, FANCD2OS (M1201K +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1708504	NM_001018115.3(FANCD2):c.2606-9A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2	GUncertain significance
Select item 1705663	NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)	FANCD2, FANCD2OS (Q1076* +1 more)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1692538	NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys)	FANCD2, FANCD2OS (E1396K +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1692056	NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1692053	NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser)	FANCD2OS, FANCD2 (N1351S +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1692043	NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1692034	NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)	LOC107303338, FANCD2 (Y534F)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1685811	NM_001018115.3(FANCD2):c.3777+1G>T	FANCD2, FANCD2OS	Single nucleotide variant (splice donor variant +1 more)	Fanconi anemia complementation group D2	GPathogenic
Select item 1685810	NM_001018115.3(FANCD2):c.1279-1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 1679035	NM_001018115.3(FANCD2):c.377+17T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 1679032	NM_001018115.3(FANCD2):c.206-20C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 1669819	NM_001018115.3(FANCD2):c.3963+11A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1649186	NM_001018115.3(FANCD2):c.889-9T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1634029	NM_001018115.3(FANCD2):c.571-19A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1617599	NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1601534	NM_001018115.3(FANCD2):c.3560+20C>T	FANCD2OS, FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 1595401	NM_001018115.3(FANCD2):c.3466+9C>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1591040	NM_001018115.3(FANCD2):c.2269+12A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GBenign/Likely benign
Select item 1588069	NM_001018115.3(FANCD2):c.695+19A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1579003	NM_001018115.3(FANCD2):c.696-18T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1564822	NM_001018115.3(FANCD2):c.439-18C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1549503	NM_001018115.3(FANCD2):c.1766+16C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1542983	NM_001018115.3(FANCD2):c.2022-4G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1533987	NM_001018115.3(FANCD2):c.2716-15G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1523794	NM_001018115.3(FANCD2):c.64+2T>G	FANCD2	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1523758	NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)	FANCD2, LOC107303338 (A799D +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1513581	NM_001018115.3(FANCD2):c.3106-13T>G	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1499355	NM_001018115.3(FANCD2):c.2169-1G>C	LOC107303338, FANCD2	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2 +1 more	GLikely pathogenic
Select item 1497582	NM_001018115.3(FANCD2):c.2859+13C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1493775	NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1489289	NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)	FANCD2, FANCD2OS (H1070R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1487062	NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)	FANCD2, LOC107303338 (G339S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1482349	NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)	FANCD2, LOC107303338 (I536T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1456103	NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	FANCD2, LOC107303338 (R328*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1450317	NM_001018115.3(FANCD2):c.2715+20C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1449465	NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	FANCD2, LOC107303338 (Q586* +1 more)	Indel (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1449419	NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe)	FANCD2, FANCD2OS (I1203F +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1449209	NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)	FANCD2, FANCD2OS (I1141V +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1442397	NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly)	FANCD2, FANCD2OS (R1099G +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1442308	NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)	FANCD2, FANCD2OS (V1293I +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1438608	NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys)	FANCD2, FANCD2OS (E1360K +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1436760	NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)	LOC107303338, FANCD2 (L270V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1434314	NM_001018115.3(FANCD2):c.1766+3A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1419154	NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)	FANCD2, LOC107303338 (I412T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1416079	NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)	FANCD2, LOC107303338 (H86Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1409405	NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu)	FANCD2, FANCD2OS (S1257L +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1408038	NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)	FANCD2, LOC107303338 (T877I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance

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