BLTP3A[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1338841	GRCh38/hg38 6p21.31(chr6:34587317-34856828)	BLTP3A, ILRUN +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 3134376	NM_017754.4(BLTP3A):c.76A>G (p.Asn26Asp)	BLTP3A (N26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134333	NM_017754.4(BLTP3A):c.172A>G (p.Ile58Val)	BLTP3A (I58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134337	NM_017754.4(BLTP3A):c.185A>G (p.Tyr62Cys)	BLTP3A (Y62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134344	NM_017754.4(BLTP3A):c.242G>C (p.Cys81Ser)	BLTP3A (C81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570036	NM_017754.4(BLTP3A):c.299C>A (p.Pro100His)	BLTP3A (P100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134363	NM_017754.4(BLTP3A):c.350T>A (p.Phe117Tyr)	BLTP3A (F117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711315	NM_017754.4(BLTP3A):c.455G>T (p.Gly152Val)	BLTP3A (G152V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134371	NM_017754.4(BLTP3A):c.473A>G (p.Asn158Ser)	BLTP3A (N158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134372	NM_017754.4(BLTP3A):c.483G>T (p.Gln161His)	BLTP3A (Q161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134373	NM_017754.4(BLTP3A):c.502C>T (p.Arg168Cys)	BLTP3A (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134374	NM_017754.4(BLTP3A):c.611C>G (p.Thr204Ser)	BLTP3A (T204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134375	NM_017754.4(BLTP3A):c.769G>A (p.Ala257Thr)	BLTP3A (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134377	NM_017754.4(BLTP3A):c.787G>T (p.Ala263Ser)	BLTP3A (A263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261133	NM_017754.4(BLTP3A):c.844A>G (p.Thr282Ala)	BLTP3A (T282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134378	NM_017754.4(BLTP3A):c.847C>T (p.Pro283Ser)	BLTP3A (P283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134379	NM_017754.4(BLTP3A):c.904A>T (p.Asn302Tyr)	BLTP3A (N302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134380	NM_017754.4(BLTP3A):c.926G>A (p.Arg309His)	BLTP3A (R309H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486454	NM_017754.4(BLTP3A):c.971A>G (p.Tyr324Cys)	BLTP3A (Y324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134325	NM_017754.4(BLTP3A):c.1024C>G (p.Arg342Gly)	BLTP3A (R342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544584	NM_017754.4(BLTP3A):c.1081C>T (p.Arg361Cys)	BLTP3A (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134326	NM_017754.4(BLTP3A):c.1117G>T (p.Ala373Ser)	BLTP3A (A373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597689	NM_017754.4(BLTP3A):c.1144C>T (p.Arg382Cys)	BLTP3A (R382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134327	NM_017754.4(BLTP3A):c.1168C>G (p.Arg390Gly)	BLTP3A (R390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134328	NM_017754.4(BLTP3A):c.1208G>T (p.Ser403Ile)	BLTP3A (S403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458064	NM_017754.4(BLTP3A):c.1235C>T (p.Thr412Met)	BLTP3A (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619479	NM_017754.4(BLTP3A):c.1306C>T (p.Pro436Ser)	BLTP3A (P436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509257	NM_017754.4(BLTP3A):c.1310G>A (p.Arg437Gln)	BLTP3A (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134329	NM_017754.4(BLTP3A):c.1469C>T (p.Thr490Ile)	BLTP3A (T490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480136	NM_017754.4(BLTP3A):c.1478C>G (p.Ser493Cys)	BLTP3A (S493C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134330	NM_017754.4(BLTP3A):c.1487G>A (p.Arg496Gln)	BLTP3A (R496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134331	NM_017754.4(BLTP3A):c.1508C>G (p.Thr503Ser)	BLTP3A (T503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615746	NM_017754.4(BLTP3A):c.1513G>A (p.Val505Ile)	BLTP3A (V505I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599940	NM_017754.4(BLTP3A):c.1672C>T (p.Arg558Cys)	BLTP3A (R558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134332	NM_017754.4(BLTP3A):c.1714T>A (p.Ser572Thr)	BLTP3A (S572T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134334	NM_017754.4(BLTP3A):c.1745G>A (p.Arg582Gln)	BLTP3A (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134335	NM_017754.4(BLTP3A):c.1811G>A (p.Arg604His)	BLTP3A (R604H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134336	NM_017754.4(BLTP3A):c.1856A>G (p.Asn619Ser)	BLTP3A (N619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134338	NM_017754.4(BLTP3A):c.1906C>T (p.Arg636Trp)	BLTP3A (R636W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134339	NM_017754.4(BLTP3A):c.1957A>G (p.Lys653Glu)	BLTP3A (K653E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469671	NM_017754.4(BLTP3A):c.1990C>T (p.Leu664Phe)	BLTP3A (L664F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134341	NM_017754.4(BLTP3A):c.2042C>T (p.Thr681Ile)	BLTP3A (T681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134342	NM_017754.4(BLTP3A):c.2087T>C (p.Val696Ala)	BLTP3A (V696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592373	NM_017754.4(BLTP3A):c.2114T>C (p.Phe705Ser)	BLTP3A (F705S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482540	NM_017754.4(BLTP3A):c.2159C>T (p.Ala720Val)	BLTP3A (A720V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134343	NM_017754.4(BLTP3A):c.2168C>T (p.Pro723Leu)	BLTP3A (P723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483221	NM_017754.4(BLTP3A):c.2183C>T (p.Ala728Val)	BLTP3A (A728V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455067	NM_017754.4(BLTP3A):c.2219G>T (p.Arg740Leu)	BLTP3A (R740L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782103	NM_017754.4(BLTP3A):c.2479C>T (p.Arg827Cys)	BLTP3A (R827C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2464586	NM_017754.4(BLTP3A):c.2482G>C (p.Val828Leu)	BLTP3A (V828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134345	NM_017754.4(BLTP3A):c.2487G>C (p.Arg829Ser)	BLTP3A (R829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556208	NM_017754.4(BLTP3A):c.2491G>C (p.Asp831His)	BLTP3A (D831H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134346	NM_017754.4(BLTP3A):c.2495A>G (p.His832Arg)	BLTP3A (H832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134347	NM_017754.4(BLTP3A):c.2519G>A (p.Arg840His)	BLTP3A (R840H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134348	NM_017754.4(BLTP3A):c.2569G>A (p.Glu857Lys)	BLTP3A (E857K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261135	NM_017754.4(BLTP3A):c.2575A>G (p.Met859Val)	BLTP3A (M859V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134349	NM_017754.4(BLTP3A):c.2579C>T (p.Thr860Ile)	BLTP3A (T860I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261134	NM_017754.4(BLTP3A):c.2581G>C (p.Gly861Arg)	BLTP3A (G861R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134350	NM_017754.4(BLTP3A):c.2587C>T (p.Pro863Ser)	BLTP3A (P863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134351	NM_017754.4(BLTP3A):c.2665G>A (p.Gly889Ser)	BLTP3A (G889S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544173	NM_017754.4(BLTP3A):c.2707C>T (p.Leu903Phe)	BLTP3A (L903F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475835	NM_017754.4(BLTP3A):c.2710G>A (p.Val904Ile)	BLTP3A (V904I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134352	NM_017754.4(BLTP3A):c.2726C>T (p.Ser909Phe)	BLTP3A (S909F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134353	NM_017754.4(BLTP3A):c.2738A>G (p.Asp913Gly)	BLTP3A (D913G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134354	NM_017754.4(BLTP3A):c.2836G>A (p.Glu946Lys)	BLTP3A (E946K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261129	NM_017754.4(BLTP3A):c.2974T>A (p.Leu992Met)	BLTP3A (L992M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261131	NM_017754.4(BLTP3A):c.3036G>T (p.Lys1012Asn)	BLTP3A (K1012N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134355	NM_017754.4(BLTP3A):c.3040A>G (p.Ile1014Val)	BLTP3A (I1014V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610613	NM_017754.4(BLTP3A):c.3062C>G (p.Ala1021Gly)	BLTP3A (A1021G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134356	NM_017754.4(BLTP3A):c.3070A>G (p.Met1024Val)	BLTP3A (M1024V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592430	NM_017754.4(BLTP3A):c.3085A>T (p.Thr1029Ser)	BLTP3A (T1029S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134357	NM_017754.4(BLTP3A):c.3140C>T (p.Thr1047Ile)	BLTP3A (T1047I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134358	NM_017754.4(BLTP3A):c.3184A>T (p.Met1062Leu)	BLTP3A (M1062L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134360	NM_017754.4(BLTP3A):c.3185T>G (p.Met1062Arg)	BLTP3A (M1062R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478311	NM_017754.4(BLTP3A):c.3292A>G (p.Met1098Val)	BLTP3A (M1098V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606460	NM_017754.4(BLTP3A):c.3302C>T (p.Thr1101Met)	BLTP3A (T1101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134361	NM_017754.4(BLTP3A):c.3319T>C (p.Phe1107Leu)	BLTP3A (F1107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261136	NM_017754.4(BLTP3A):c.3373A>T (p.Ser1125Cys)	BLTP3A (S1125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134362	NM_017754.4(BLTP3A):c.3503G>T (p.Gly1168Val)	BLTP3A (G1168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134364	NM_017754.4(BLTP3A):c.3523A>G (p.Asn1175Asp)	BLTP3A (N1175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261132	NM_017754.4(BLTP3A):c.3568G>T (p.Val1190Phe)	BLTP3A (V1190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599298	NM_017754.4(BLTP3A):c.3619C>T (p.Arg1207Cys)	BLTP3A (R1207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134365	NM_017754.4(BLTP3A):c.3676G>A (p.Gly1226Ser)	BLTP3A (G1226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134366	NM_017754.4(BLTP3A):c.3760A>G (p.Ile1254Val)	BLTP3A (I1254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134367	NM_017754.4(BLTP3A):c.3781C>T (p.Arg1261Cys)	BLTP3A (R1261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134368	NM_017754.4(BLTP3A):c.3994C>G (p.Pro1332Ala)	BLTP3A (P1332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134369	NM_017754.4(BLTP3A):c.3995C>G (p.Pro1332Arg)	BLTP3A (P1332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788856	NM_017754.4(BLTP3A):c.4139G>A (p.Arg1380Lys)	BLTP3A (R1380K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134370	NM_017754.4(BLTP3A):c.4232T>C (p.Ile1411Thr)	BLTP3A (I1411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 686425	GRCh37/hg19 6p21.31(chr6:34630244-35087148)x3	ANKS1A, BLTP3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 686217	GRCh37/hg19 6p21.31(chr6:34807044-34890868)x1	ANKS1A, BLTP3A +1 more	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394944	GRCh37/hg19 6p21.31(chr6:34730464-34869018)x3	ANKS1A, BLTP3A +2 more	Copy number gain	See cases	GUncertain significance
Select item 394143	GRCh37/hg19 6p21.31(chr6:34840147-35022430)x3	ANKS1A, BLTP3A +1 more	Copy number gain	See cases	GUncertain significance

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Items: 99