BLTP3B[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 3134429	NM_015054.2(BLTP3B):c.4384A>G (p.Thr1462Ala)	BLTP3B (T1462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134428	NM_015054.2(BLTP3B):c.4364T>A (p.Leu1455His)	BLTP3B (L1455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261142	NM_015054.2(BLTP3B):c.4248G>T (p.Glu1416Asp)	BLTP3B (E1416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134426	NM_015054.2(BLTP3B):c.4083T>G (p.Asp1361Glu)	BLTP3B (D1361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134425	NM_015054.2(BLTP3B):c.4037A>G (p.His1346Arg)	BLTP3B (H1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784306	NM_015054.2(BLTP3B):c.4023T>G (p.Thr1341=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477654	NM_015054.2(BLTP3B):c.3992G>C (p.Ser1331Thr)	BLTP3B (S1331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134423	NM_015054.2(BLTP3B):c.3985C>T (p.Arg1329Trp)	BLTP3B (R1329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261143	NM_015054.2(BLTP3B):c.3964A>G (p.Asn1322Asp)	BLTP3B (N1322D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134422	NM_015054.2(BLTP3B):c.3916G>A (p.Val1306Ile)	BLTP3B (V1306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462417	NM_015054.2(BLTP3B):c.3724G>A (p.Asp1242Asn)	BLTP3B (D1242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134421	NM_015054.2(BLTP3B):c.3709C>T (p.Arg1237Cys)	BLTP3B (R1237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485207	NM_015054.2(BLTP3B):c.3677G>A (p.Gly1226Asp)	BLTP3B (G1226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707901	NM_015054.2(BLTP3B):c.3667G>A (p.Asp1223Asn)	BLTP3B (D1223N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784307	NM_015054.2(BLTP3B):c.3523A>G (p.Ile1175Val)	BLTP3B (I1175V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3261138	NM_015054.2(BLTP3B):c.3458G>T (p.Gly1153Val)	BLTP3B (G1153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739462	NM_015054.2(BLTP3B):c.3451T>C (p.Tyr1151His)	BLTP3B (Y1151H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134418	NM_015054.2(BLTP3B):c.3386A>G (p.Glu1129Gly)	BLTP3B (E1129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134417	NM_015054.2(BLTP3B):c.3266G>A (p.Arg1089His)	BLTP3B (R1089H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520327	NM_015054.2(BLTP3B):c.3257C>T (p.Pro1086Leu)	BLTP3B (P1086L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712605	NM_015054.2(BLTP3B):c.3219T>C (p.Val1073=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134416	NM_015054.2(BLTP3B):c.3215C>G (p.Pro1072Arg)	BLTP3B (P1072R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134415	NM_015054.2(BLTP3B):c.3193A>G (p.Ile1065Val)	BLTP3B (I1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134414	NM_015054.2(BLTP3B):c.3175C>T (p.Leu1059Phe)	BLTP3B (L1059F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454799	NM_015054.2(BLTP3B):c.3173C>T (p.Ser1058Leu)	BLTP3B (S1058L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134413	NM_015054.2(BLTP3B):c.3095C>T (p.Ser1032Leu)	BLTP3B (S1032L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134412	NM_015054.2(BLTP3B):c.3094T>C (p.Ser1032Pro)	BLTP3B (S1032P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261141	NM_015054.2(BLTP3B):c.3076G>C (p.Gly1026Arg)	BLTP3B (G1026R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134411	NM_015054.2(BLTP3B):c.3055A>G (p.Ile1019Val)	BLTP3B (I1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714543	NM_015054.2(BLTP3B):c.3050C>T (p.Ser1017Leu)	BLTP3B (S1017L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 727117	NM_015054.2(BLTP3B):c.3014C>T (p.Thr1005Ile)	BLTP3B (T1005I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3134409	NM_015054.2(BLTP3B):c.2999A>G (p.Lys1000Arg)	BLTP3B (K1000R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134408	NM_015054.2(BLTP3B):c.2993A>T (p.Asp998Val)	BLTP3B (D998V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776739	NM_015054.2(BLTP3B):c.2993A>G (p.Asp998Gly)	BLTP3B (D998G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134407	NM_015054.2(BLTP3B):c.2960G>C (p.Ser987Thr)	BLTP3B (S987T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134406	NM_015054.2(BLTP3B):c.2957A>G (p.Lys986Arg)	BLTP3B (K986R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261137	NM_015054.2(BLTP3B):c.2942G>A (p.Ser981Asn)	BLTP3B (S981N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134405	NM_015054.2(BLTP3B):c.2942G>C (p.Ser981Thr)	BLTP3B (S981T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134404	NM_015054.2(BLTP3B):c.2800A>G (p.Met934Val)	BLTP3B (M934V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725890	NM_015054.2(BLTP3B):c.2713T>A (p.Phe905Ile)	BLTP3B (F905I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2467691	NM_015054.2(BLTP3B):c.2698A>T (p.Thr900Ser)	BLTP3B (T900S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459145	NM_015054.2(BLTP3B):c.2666G>A (p.Ser889Asn)	BLTP3B (S889N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134403	NM_015054.2(BLTP3B):c.2564A>G (p.Gln855Arg)	BLTP3B (Q855R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712606	NM_015054.2(BLTP3B):c.2550C>T (p.Gly850=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 152829	GRCh38/hg38 12q23.1(chr12:100058819-100217800)x1	ACTR6, BLTP3B +9 more	Copy number loss	See cases	GUncertain significance
Select item 3134402	NM_015054.2(BLTP3B):c.2419C>A (p.Leu807Ile)	BLTP3B (L807I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134401	NM_015054.2(BLTP3B):c.2414T>C (p.Ile805Thr)	BLTP3B (I805T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134400	NM_015054.2(BLTP3B):c.2293C>T (p.Arg765Trp)	BLTP3B (R765W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536095	NM_015054.2(BLTP3B):c.2285G>A (p.Arg762Gln)	BLTP3B (R762Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712607	NM_015054.2(BLTP3B):c.2227A>G (p.Thr743Ala)	BLTP3B (T743A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134399	NM_015054.2(BLTP3B):c.2150G>A (p.Ser717Asn)	BLTP3B (S717N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 716330	NM_015054.2(BLTP3B):c.2064T>C (p.Ser688=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134398	NM_015054.2(BLTP3B):c.2032C>T (p.Pro678Ser)	BLTP3B (P678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134397	NM_015054.2(BLTP3B):c.2006A>G (p.His669Arg)	BLTP3B (H669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261145	NM_015054.2(BLTP3B):c.1948T>G (p.Phe650Val)	BLTP3B (F650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261144	NM_015054.2(BLTP3B):c.1910G>A (p.Ser637Asn)	BLTP3B (S637N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134396	NM_015054.2(BLTP3B):c.1856G>A (p.Arg619Gln)	BLTP3B (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134395	NM_015054.2(BLTP3B):c.1838G>A (p.Arg613Lys)	BLTP3B (R613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134394	NM_015054.2(BLTP3B):c.1792C>T (p.Arg598Cys)	BLTP3B (R598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605111	NM_015054.2(BLTP3B):c.1757C>T (p.Ser586Phe)	BLTP3B (S586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134393	NM_015054.2(BLTP3B):c.1571G>A (p.Ser524Asn)	BLTP3B (S524N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134392	NM_015054.2(BLTP3B):c.1562A>G (p.Asn521Ser)	BLTP3B (N521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134391	NM_015054.2(BLTP3B):c.1502A>G (p.Tyr501Cys)	BLTP3B (Y501C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134390	NM_015054.2(BLTP3B):c.1475A>G (p.Tyr492Cys)	BLTP3B (Y492C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774217	NM_015054.2(BLTP3B):c.1471C>T (p.Leu491=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134389	NM_015054.2(BLTP3B):c.1452T>G (p.Ile484Met)	BLTP3B (I484M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134388	NM_015054.2(BLTP3B):c.1430G>A (p.Arg477His)	BLTP3B (R477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59817	GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3	ACTR6, BLTP3B +16 more	Copy number gain	See cases	GPathogenic
Select item 2542013	NM_015054.2(BLTP3B):c.1361T>C (p.Met454Thr)	BLTP3B (M454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134387	NM_015054.2(BLTP3B):c.1349A>C (p.Lys450Thr)	BLTP3B (K450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134386	NM_015054.2(BLTP3B):c.1336T>C (p.Ser446Pro)	BLTP3B (S446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134385	NM_015054.2(BLTP3B):c.1214A>G (p.Gln405Arg)	BLTP3B (Q405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134384	NM_015054.2(BLTP3B):c.1198G>A (p.Val400Ile)	BLTP3B (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134383	NM_015054.2(BLTP3B):c.1189G>C (p.Glu397Gln)	BLTP3B (E397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134382	NM_015054.2(BLTP3B):c.1157A>G (p.Asn386Ser)	BLTP3B (N386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511916	NM_015054.2(BLTP3B):c.1151C>G (p.Thr384Arg)	BLTP3B (T384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134381	NM_015054.2(BLTP3B):c.1123T>C (p.Trp375Arg)	BLTP3B (W375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134434	NM_015054.2(BLTP3B):c.997G>A (p.Asp333Asn)	BLTP3B (D333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545940	NM_015054.2(BLTP3B):c.892A>G (p.Asn298Asp)	BLTP3B (N298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486311	NM_015054.2(BLTP3B):c.881C>T (p.Thr294Met)	BLTP3B (T294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134433	NM_015054.2(BLTP3B):c.880A>C (p.Thr294Pro)	BLTP3B (T294P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596882	NM_015054.2(BLTP3B):c.847A>G (p.Thr283Ala)	BLTP3B (T283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134432	NM_015054.2(BLTP3B):c.838C>G (p.Gln280Glu)	BLTP3B (Q280E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134431	NM_015054.2(BLTP3B):c.805G>C (p.Glu269Gln)	BLTP3B (E269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134430	NM_015054.2(BLTP3B):c.757A>G (p.Met253Val)	BLTP3B (M253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784308	NM_015054.2(BLTP3B):c.639A>G (p.Gln213=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3261139	NM_015054.2(BLTP3B):c.593C>T (p.Ser198Leu)	BLTP3B (S198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717367	NM_015054.2(BLTP3B):c.565A>C (p.Arg189=)	BLTP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134427	NM_015054.2(BLTP3B):c.434T>G (p.Phe145Cys)	BLTP3B (F145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134424	NM_015054.2(BLTP3B):c.401T>G (p.Ile134Ser)	BLTP3B (I134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785422	NM_015054.2(BLTP3B):c.208-4G>T	BLTP3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687225	GRCh37/hg19 12q23.1(chr12:100455466-100697174)x3	ACTR6, BLTP3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687126	GRCh37/hg19 12q23.1(chr12:100185181-100736359)x1	ACTR6, ANKS1B +3 more	Copy number loss	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 393851	GRCh37/hg19 12q23.1(chr12:100300094-100452597)x3	ANKS1B, BLTP3B	Copy number gain	See cases	GLikely benign

<< First< Prev

Page of 2