NRAP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 879493	NM_004132.5(HABP2):c.*349C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879494	NM_004132.5(HABP2):c.*360A>C	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298926	NM_004132.5(HABP2):c.*365A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298927	NM_004132.5(HABP2):c.*418C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298928	NM_004132.5(HABP2):c.*467C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298929	NM_004132.5(HABP2):c.*527C>T	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879852	NM_004132.5(HABP2):c.*565A>G	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298930	NM_198060.4(NRAP):c.*7del	HABP2, NRAP	Deletion (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign/Likely benign
Select item 298931	NM_198060.4(NRAP):c.5170AAG[2] (p.Lys1726del)	NRAP, HABP2 (K1690del +3 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2245566	NM_198060.4(NRAP):c.5167A>G (p.Lys1723Glu)	HABP2, NRAP (K1688E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298932	NM_004132.5(HABP2):c.*644T>G	HABP2, NRAP (I1683L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 3300984	NM_198060.4(NRAP):c.5120A>T (p.His1707Leu)	HABP2, NRAP (H1671L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298933	NM_004132.5(HABP2):c.*682T>G	HABP2, NRAP (D1706A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 3347639	NM_198060.4(NRAP):c.5108A>T (p.Glu1703Val)	HABP2, NRAP (E1667V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	NRAP-related disorder	GUncertain significance
Select item 2629595	NM_198060.4(NRAP):c.5089-3C>T	HABP2, NRAP (Q1697*)	Single nucleotide variant (3 prime UTR variant +2 more)	NRAP-related disorder	GUncertain significance
Select item 298934	NM_004132.5(HABP2):c.*765C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298935	NM_198060.4(NRAP):c.5089-78C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign
Select item 877911	NM_004132.5(HABP2):c.*802G>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877912	NM_004132.5(HABP2):c.*813C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877913	NM_004132.5(HABP2):c.*822C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298936	NM_004132.5(HABP2):c.*823C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298937	NM_004132.5(HABP2):c.*859A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298938	NM_004132.5(HABP2):c.*869T>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298939	NM_004132.5(HABP2):c.*919T>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298940	NM_004132.5(HABP2):c.*1039T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298941	NM_004132.5(HABP2):c.*1051C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298942	NM_004132.5(HABP2):c.*1052G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298943	NM_004132.5(HABP2):c.*1088T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298944	NM_004132.5(HABP2):c.*1115C>A	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 878080	NM_004132.5(HABP2):c.*1124C>A	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298945	NM_004132.5(HABP2):c.*1159C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298946	NM_004132.5(HABP2):c.*1160G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 879537	NM_004132.5(HABP2):c.*1175C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 1274061	NM_198060.4(NRAP):c.5088+27del	NRAP	Deletion (intron variant)	not provided	GBenign
Select item 3050126	NM_198060.4(NRAP):c.5088+1G>A	NRAP	Single nucleotide variant (splice donor variant)	NRAP-related disorder	GLikely benign
Select item 3038468	NM_198060.4(NRAP):c.5051T>A (p.Leu1684Gln)	NRAP (L1648Q +2 more)	Single nucleotide variant (missense variant)	NRAP-related disorder	GLikely benign
Select item 768389	NM_198060.4(NRAP):c.5046G>A (p.Ala1682=)	NRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2615232	NM_198060.4(NRAP):c.5039G>C (p.Arg1680Pro)	NRAP (R1644P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3366017	NM_198060.4(NRAP):c.5035C>T (p.Arg1679Trp)	NRAP (R1643W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258525	NM_198060.4(NRAP):c.4956+194C>T	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776544	NM_198060.4(NRAP):c.4927G>T (p.Ala1643Ser)	NRAP (A1608S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257443	NM_198060.4(NRAP):c.4905G>A (p.Pro1635=)	NRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596147	NM_198060.4(NRAP):c.4904C>T (p.Pro1635Leu)	NRAP (P1599L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240889	NM_198060.4(NRAP):c.4856C>A (p.Ala1619Asp)	NRAP (A1583D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231718	NM_198060.4(NRAP):c.4802A>C (p.His1601Pro)	NRAP (H1565P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202014	NM_198060.4(NRAP):c.4769A>G (p.Lys1590Arg)	NRAP (K1590R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202013	NM_198060.4(NRAP):c.4764G>C (p.Glu1588Asp)	NRAP (E1552D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202012	NM_198060.4(NRAP):c.4738G>A (p.Val1580Ile)	NRAP (V1545I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389836	NM_198060.4(NRAP):c.4708G>A (p.Asp1570Asn)	NRAP (D1535N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236321	NM_198060.4(NRAP):c.4705G>A (p.Asp1569Asn)	NRAP (D1534N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236320	NM_198060.4(NRAP):c.4699A>G (p.Ser1567Gly)	NRAP (S1531G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640847	NM_198060.4(NRAP):c.4676G>C (p.Arg1559Pro)	NRAP (R1523P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598916	NM_198060.4(NRAP):c.4676G>A (p.Arg1559Gln)	NRAP (R1524Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354012	NM_198060.4(NRAP):c.4648C>T (p.Arg1550Trp)	NRAP (R1514W +2 more)	Single nucleotide variant (missense variant)	NRAP-related disorder	GLikely benign
Select item 1229195	NM_198060.4(NRAP):c.4645-152A>G	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236724	NM_198060.4(NRAP):c.4592T>C (p.Leu1531Pro)	NRAP (L1495P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595031	NM_198060.4(NRAP):c.4562A>G (p.Gln1521Arg)	NRAP (Q1521R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279036	NM_198060.4(NRAP):c.4537-107G>A	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236570	NM_198060.4(NRAP):c.4537-203G>A	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280246	NM_198060.4(NRAP):c.4536+208dup	NRAP	Duplication (intron variant)	not provided	GBenign
Select item 1249067	NM_198060.4(NRAP):c.4536+187T>C	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226674	NM_198060.4(NRAP):c.4536+54T>C	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060628	NM_198060.4(NRAP):c.4536C>T (p.Asp1512=)	NRAP	Single nucleotide variant (synonymous variant)	NRAP-related disorder	GBenign
Select item 1320507	NM_198060.4(NRAP):c.4504C>T (p.Arg1502Ter)	NRAP (R1466* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2247931	NM_198060.4(NRAP):c.4465C>A (p.His1489Asn)	NRAP (H1489N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672417	NM_198060.4(NRAP):c.4433G>A (p.Arg1478His)	NRAP (R1442H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1265735	NM_198060.4(NRAP):c.4431+169T>G	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3202011	NM_198060.4(NRAP):c.4415A>G (p.Tyr1472Cys)	NRAP (Y1436C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383695	NM_198060.4(NRAP):c.4362C>G (p.Ile1454Met)	NRAP (I1419M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294904	NM_198060.4(NRAP):c.4333-135C>T	NRAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175644	NM_198060.4(NRAP):c.4333-189del	NRAP	Deletion (intron variant)	not provided	GBenign
Select item 734954	NM_198060.4(NRAP):c.4330G>A (p.Glu1444Lys)	NRAP (E1409K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2520297	NM_198060.4(NRAP):c.4327A>G (p.Ser1443Gly)	NRAP (S1407G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202009	NM_198060.4(NRAP):c.4321C>T (p.Leu1441Phe)	NRAP (L1405F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202008	NM_198060.4(NRAP):c.4286C>A (p.Ser1429Tyr)	NRAP (S1394Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372657	NM_198060.4(NRAP):c.4219C>T (p.Gln1407Ter)	NRAP (Q1371* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3202007	NM_198060.4(NRAP):c.4213G>T (p.Ala1405Ser)	NRAP (A1370S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612157	NM_198060.4(NRAP):c.4172T>C (p.Leu1391Pro)	NRAP (L1355P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718630	NM_198060.4(NRAP):c.4137C>T (p.His1379=)	NRAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631465	NM_198060.4(NRAP):c.4078C>T (p.Pro1360Ser)	NRAP (P1324S +2 more)	Single nucleotide variant (missense variant)	NRAP-related disorder	GUncertain significance
Select item 3350502	NM_198060.4(NRAP):c.4043G>A (p.Arg1348Lys)	NRAP (R1312K +2 more)	Single nucleotide variant (missense variant)	NRAP-related disorder	GLikely benign
Select item 2246940	NM_198060.4(NRAP):c.4030C>G (p.Leu1344Val)	NRAP (L1308V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640848	NM_198060.4(NRAP):c.4010T>C (p.Met1337Thr)	NRAP (M1301T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3354628	NM_198060.4(NRAP):c.4009A>G (p.Met1337Val)	NRAP (M1301V +2 more)	Single nucleotide variant (missense variant)	NRAP-related disorder	GUncertain significance
Select item 2260033	NM_198060.4(NRAP):c.3965C>G (p.Pro1322Arg)	NRAP (P1286R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537399	NM_198060.4(NRAP):c.3962G>A (p.Gly1321Glu)	NRAP (G1321E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602999	NM_198060.4(NRAP):c.3905T>C (p.Ile1302Thr)	NRAP (I1266T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994436	NM_198060.4(NRAP):c.3889C>G (p.Arg1297Gly)	NRAP (R1261G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977178	NM_198060.4(NRAP):c.3866A>G (p.Glu1289Gly)	NRAP (E1253G +2 more)	Single nucleotide variant (missense variant)	Sudden unexplained death	GUncertain significance
Select item 2214327	NM_198060.4(NRAP):c.3847G>A (p.Gly1283Ser)	NRAP (G1247S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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