ClinVar for Gene (Select 3026) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 263

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3283394	NM_004132.5(HABP2):c.619A>G (p.Asn207Asp)	HABP2 (N181D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283393	NM_004132.5(HABP2):c.383C>G (p.Thr128Ser)	HABP2 (T128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283392	NM_004132.5(HABP2):c.1191G>C (p.Lys397Asn)	HABP2 (K397N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283391	NM_004132.5(HABP2):c.890G>T (p.Gly297Val)	HABP2 (G271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233332	NM_004132.5(HABP2):c.1520G>T (p.Gly507Val)	HABP2 (G481V +1 more)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 5	GUncertain significance
Select item 3104082	NM_004132.5(HABP2):c.986C>T (p.Ala329Val)	HABP2 (A329V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104081	NM_004132.5(HABP2):c.985G>A (p.Ala329Thr)	HABP2 (A329T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104079	NM_004132.5(HABP2):c.962C>T (p.Thr321Met)	HABP2 (T295M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104078	NM_004132.5(HABP2):c.883C>T (p.Leu295Phe)	HABP2 (L269F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104077	NM_004132.5(HABP2):c.802T>C (p.Trp268Arg)	HABP2 (W242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104076	NM_004132.5(HABP2):c.701A>G (p.Asp234Gly)	HABP2 (D234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104073	NM_004132.5(HABP2):c.550G>A (p.Gly184Arg)	HABP2 (G158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104072	NM_004132.5(HABP2):c.488C>T (p.Ala163Val)	HABP2 (A137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104071	NM_004132.5(HABP2):c.487G>A (p.Ala163Thr)	HABP2 (A163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104070	NM_004132.5(HABP2):c.403C>T (p.Arg135Cys)	HABP2 (R109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104069	NM_004132.5(HABP2):c.341C>T (p.Thr114Met)	HABP2 (T88M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104068	NM_004132.5(HABP2):c.1571A>G (p.Tyr524Cys)	HABP2 (Y524C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104067	NM_004132.5(HABP2):c.139G>A (p.Glu47Lys)	HABP2 (E47K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104066	NM_004132.5(HABP2):c.1328C>G (p.Ser443Cys)	HABP2 (S417C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104065	NM_004132.5(HABP2):c.1312G>C (p.Asp438His)	HABP2 (D412H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104064	NM_004132.5(HABP2):c.1049C>T (p.Ala350Val)	HABP2 (A324V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3052769	NM_004132.5(HABP2):c.1094+9C>A	HABP2	Single nucleotide variant (intron variant)	HABP2-related disorder	GLikely benign
Select item 3043223	NM_004132.5(HABP2):c.1266T>C (p.Gly422=)	HABP2	Single nucleotide variant (synonymous variant)	HABP2-related disorder	GBenign
Select item 3039140	NM_004132.5(HABP2):c.1470T>C (p.Ser490=)	HABP2	Single nucleotide variant (synonymous variant)	HABP2-related disorder	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2640846	NM_004132.5(HABP2):c.275G>C (p.Gly92Ala)	HABP2 (G66A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636077	NM_004132.5(HABP2):c.259G>A (p.Asp87Asn)	HABP2 (D61N +1 more)	Single nucleotide variant (missense variant)	HABP2-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 2621972	NM_004132.5(HABP2):c.1070T>G (p.Val357Gly)	HABP2 (V357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614613	NM_004132.5(HABP2):c.641C>T (p.Ala214Val)	HABP2 (A214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607095	NM_004132.5(HABP2):c.1444C>T (p.Leu482Phe)	HABP2 (L456F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2550865	NM_004132.5(HABP2):c.578A>T (p.Asp193Val)	HABP2 (D167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538674	NM_004132.5(HABP2):c.398A>C (p.Tyr133Ser)	HABP2 (Y107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520975	NM_004132.5(HABP2):c.253G>A (p.Gly85Ser)	HABP2 (G59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508640	NM_004132.5(HABP2):c.1268A>T (p.His423Leu)	HABP2 (H397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489885	NM_004132.5(HABP2):c.1385G>A (p.Arg462His)	HABP2 (R462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479096	NM_004132.5(HABP2):c.57G>T (p.Lys19Asn)	HABP2 (K19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474541	NM_004132.5(HABP2):c.365G>A (p.Arg122Gln)	HABP2 (R96Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473386	NM_004132.5(HABP2):c.1658C>G (p.Thr553Ser)	HABP2 (T553S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466117	NM_004132.5(HABP2):c.473C>T (p.Pro158Leu)	HABP2 (P132L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401271	NM_004132.5(HABP2):c.1043G>A (p.Gly348Asp)	HABP2 (G322D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394735	NM_004132.5(HABP2):c.85T>G (p.Leu29Val)	HABP2 (L3V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379785	NM_004132.5(HABP2):c.427A>G (p.Thr143Ala)	HABP2 (T143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370371	NM_004132.5(HABP2):c.387G>C (p.Gln129His)	HABP2 (Q103H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356262	NM_004132.5(HABP2):c.706G>A (p.Glu236Lys)	HABP2 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350506	NM_004132.5(HABP2):c.1475T>A (p.Ile492Asn)	HABP2 (I466N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347255	NM_004132.5(HABP2):c.471C>A (p.Asn157Lys)	HABP2 (N157K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341250	NM_004132.5(HABP2):c.787A>G (p.Asn263Asp)	HABP2 (N237D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331515	NM_004132.5(HABP2):c.637C>A (p.His213Asn)	HABP2 (H187N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326331	NM_004132.5(HABP2):c.15G>A (p.Met5Ile)	HABP2 (M5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307926	NM_004132.5(HABP2):c.1291G>T (p.Val431Leu)	HABP2 (V431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304736	NM_004132.5(HABP2):c.80T>G (p.Met27Arg)	HABP2 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296213	NM_004132.5(HABP2):c.499C>T (p.Arg167Trp)	HABP2 (R167W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275473	NM_004132.5(HABP2):c.332T>C (p.Val111Ala)	HABP2, LOC129390229 (V85A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258476	NM_004132.5(HABP2):c.663C>A (p.His221Gln)	HABP2 (H221Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2241105	NM_004132.5(HABP2):c.1427T>C (p.Leu476Ser)	HABP2 (L476S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237634	NM_004132.5(HABP2):c.335A>G (p.Gln112Arg)	HABP2, LOC129390229 (Q86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232036	NM_004132.5(HABP2):c.841G>A (p.Val281Ile)	HABP2 (V281I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220276	NM_004132.5(HABP2):c.365G>T (p.Arg122Leu)	HABP2 (R122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210653	NM_004132.5(HABP2):c.59C>T (p.Thr20Ile)	HABP2 (T20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707234	NM_004132.5(HABP2):c.70-43G>C	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691801	NM_004132.5(HABP2):c.1373-199T>C	HABP2	Single nucleotide variant	not provided	GLikely benign
Select item 1684095	NM_004132.5(HABP2):c.331+236A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683615	NM_004132.5(HABP2):c.1590C>T (p.Gly530=)	HABP2	Single nucleotide variant (synonymous variant)	Thyroid cancer, nonmedullary, 5	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526352	NM_004132.5(HABP2):c.1518+104A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 1318297	NM_004132.5(HABP2):c.1095-183C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318098	NM_004132.5(HABP2):c.838+38G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318062	NM_004132.5(HABP2):c.223+286G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318009	NM_004132.5(HABP2):c.223+214G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317698	NM_004132.5(HABP2):c.107-273C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317606	NM_004132.5(HABP2):c.838+208G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317597	NM_004132.5(HABP2):c.741-81C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317201	NM_004132.5(HABP2):c.568+202A>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317200	NM_004132.5(HABP2):c.449-108G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317100	NM_004132.5(HABP2):c.332-341C>A	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316967	NM_004132.5(HABP2):c.449-84T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316834	NM_004132.5(HABP2):c.223+129A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316645	NM_004132.5(HABP2):c.107-220A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316644	NM_004132.5(HABP2):c.223+76G>T	HABP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297834	NM_004132.5(HABP2):c.70-303G>A	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291252	NM_004132.5(HABP2):c.1237+170C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291189	NM_004132.5(HABP2):c.740+312del	HABP2	Deletion (intron variant)	not provided	GBenign
Select item 1289509	NM_004132.5(HABP2):c.838+147C>T	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288932	NM_004132.5(HABP2):c.332-151A>C	HABP2, LOC129390229	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288592	NM_004132.5(HABP2):c.449-247C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287963	NM_004132.5(HABP2):c.70-55A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287063	NM_004132.5(HABP2):c.106+246C>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283165	NM_004132.5(HABP2):c.1372+314A>G	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282929	NM_004132.5(HABP2):c.569-81T>C	HABP2	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 3