ClinVar for MedGen (Select 854020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064843	NM_032444.4(SLX4):c.951-3C>G	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 2664892	NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)	SLX4 (E36*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2436114	NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)	SLX4 (R349G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 2436113	NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)	SLX4 (G1732A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 1692018	NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)	SLX4 (K1635E)	Single nucleotide variant (missense variant)	SLX4-related condition +3 more	GUncertain significance
Select item 1692010	NM_032444.4(SLX4):c.3064C>T (p.Leu1022=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1691998	NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser)	SLX4 (L497S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1675132	NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)	SLX4 (S1567F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1668806	NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +2 more	GLikely benign
Select item 1653085	NM_032444.4(SLX4):c.420G>A (p.Glu140=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1629767	NM_032444.4(SLX4):c.3366G>A (p.Pro1122=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1629760	NM_032444.4(SLX4):c.4599T>C (p.Ala1533=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1617981	NM_032444.4(SLX4):c.2724G>A (p.Pro908=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1611282	NM_032444.4(SLX4):c.1824G>A (p.Glu608=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1602615	NM_032444.4(SLX4):c.1872C>T (p.Ser624=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1587607	NM_032444.4(SLX4):c.4185C>T (p.Val1395=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1577591	NM_032444.4(SLX4):c.4740-5G>A	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1564203	NM_032444.4(SLX4):c.2160+18C>T	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1558418	NM_032444.4(SLX4):c.3741G>A (p.Glu1247=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1557958	NM_032444.4(SLX4):c.2289T>C (p.Pro763=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GLikely benign
Select item 1546616	NM_032444.4(SLX4):c.3588T>C (p.Asp1196=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1540726	NM_032444.4(SLX4):c.1683+9C>T	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1524216	NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly)	SLX4 (R1137G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1510044	NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)	SLX4 (S115R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1503473	NM_032444.4(SLX4):c.258A>G (p.Ile86Met)	SLX4 (I86M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1499191	NM_032444.4(SLX4):c.499G>A (p.Glu167Lys)	SLX4 (E167K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1494437	NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp)	SLX4 (R429W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1491723	NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)	SLX4 (K176N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1489900	NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr)	SLX4 (P469T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1488330	NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp)	SLX4 (E907D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1485174	NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GConflicting classifications of pathogenicity
Select item 1483759	NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro)	SLX4 (A683P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1482165	NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln)	SLX4 (E406Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1481402	NM_032444.4(SLX4):c.1054C>T (p.His352Tyr)	SLX4 (H352Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1478829	NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro)	SLX4 (T547P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1477344	NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu)	SLX4 (P1624L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1476491	NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn)	SLX4 (S1452N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1473151	NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)	SLX4 (R1445Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1471784	NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)	SLX4 (A1234V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1470938	NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn)	SLX4 (S1417N)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1467692	NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg)	SLX4 (S1382R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1463805	NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln)	SLX4 (P337Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1450372	NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg)	SLX4 (K462R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1448266	NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)	SLX4 (V1284L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1444434	NM_032444.4(SLX4):c.2335G>A (p.Val779Met)	SLX4 (V779M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1443139	NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly)	SLX4 (E827G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1441396	NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly)	SLX4 (S1002G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1436850	NM_032444.4(SLX4):c.679G>A (p.Ala227Thr)	SLX4 (A227T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1434561	NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del)	SLX4 (E841del)	Microsatellite (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 1434387	NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg)	SLX4 (S1741R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1433594	NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp)	SLX4 (G517D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1432851	NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu)	SLX4 (P1764L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1424777	NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu)	SLX4 (S1134L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1423896	NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser)	SLX4 (R583S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1421269	NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)	SLX4 (S1481R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1417300	NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr)	SLX4 (I1423T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1417020	NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr)	SLX4 (H1804Y)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1401141	NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp)	SLX4 (L1714W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1395245	NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala)	SLX4 (T757A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1395201	NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro)	SLX4 (Q843P)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1394623	NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys)	SLX4 (E1147K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1389755	NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser)	SLX4 (P585S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1371379	NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu)	SLX4 (S1743L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1370356	NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1370061	NM_032444.4(SLX4):c.2857C>G (p.Leu953Val)	SLX4 (L953V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1366481	NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)	SLX4 (W823*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P +1 more	GPathogenic/Likely pathogenic
Select item 1365733	NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu)	SLX4 (S1508L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1364811	NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)	SLX4 (P664T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1361466	NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln)	SLX4 (E1729Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1360024	NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly)	SLX4 (R1279G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1356310	NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln)	SLX4 (E968Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1346474	NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg)	SLX4 (G732R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1343303	NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)	SLX4 (T1571M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1337917	NM_032444.4(SLX4):c.2241C>T (p.Ala747=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1337807	NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser)	SLX4 (P469S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1337615	NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe)	SLX4 (S498F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 1337269	NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln)	SLX4 (P600Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1336585	NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp)	SLX4 (R1826W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1327082	NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr)	SLX4 (A1259T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1327081	NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu)	SLX4 (P664L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1325101	NM_032444.4(SLX4):c.951-1G>T	SLX4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1323619	NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)	SLX4 (L1542*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GPathogenic
Select item 1323618	NM_032444.4(SLX4):c.4921dup (p.Val1641fs)	SLX4 (V1641fs)	Duplication (frameshift variant)	Fanconi anemia complementation group P +1 more	GConflicting classifications of pathogenicity
Select item 1319572	NM_032444.4(SLX4):c.1904C>T (p.Ala635Val)	SLX4 (A635V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1319509	NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)	SLX4 (G1064R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1319486	NM_032444.4(SLX4):c.4367G>A (p.Arg1456His)	SLX4 (R1456H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1319455	NM_032444.4(SLX4):c.703G>C (p.Ala235Pro)	SLX4 (A235P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1317152	NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys)	SLX4 (S388C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179203	NM_032444.4(SLX4):c.1163+2dup	SLX4	Duplication (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1082212	NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1070771	NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)	SLX4 (R1299fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1061800	NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly)	SLX4 (D1125G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1059776	NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu)	SLX4 (P1317L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1054622	NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr)	SLX4 (H1654Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1051899	NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu)	SLX4 (Q1590E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +2 more	GUncertain significance
Select item 1044192	NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)	SLX4 (L1056M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1043341	NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser)	SLX4 (A1643S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1042061	NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)	SLX4 (P245L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1041719	NM_032444.4(SLX4):c.421G>C (p.Gly141Arg)	SLX4 (G141R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1039911	NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)	SLX4 (P1223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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