"PreventionGenetics, part of Exact Sciences"[submitter] AND "BLTP1"[ge - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041193	NM_001384125.1(BLTP1):c.15G>A (p.Lys5=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3044913	NM_001384125.1(BLTP1):c.165T>C (p.Ile55=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 776015	NM_001384125.1(BLTP1):c.214+8T>G	BLTP1	Single nucleotide variant (intron variant)	BLTP1-related disorder +1 more	GBenign/Likely benign
Select item 3040802	NM_001384125.1(BLTP1):c.408T>C (p.Phe136=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 809676	NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg)	BLTP1 (P192R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3046186	NM_001384125.1(BLTP1):c.660G>T (p.Pro220=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3035676	NM_001384125.1(BLTP1):c.747T>C (p.Ile249=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3036832	NM_001384125.1(BLTP1):c.1029T>C (p.Tyr343=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3030203	NM_001384125.1(BLTP1):c.1189T>C (p.Leu397=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3049027	NM_001384125.1(BLTP1):c.1422G>A (p.Pro474=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3039715	NM_001384125.1(BLTP1):c.1655-11_1655-10del	BLTP1	Deletion (intron variant)	BLTP1-related disorder	GLikely benign
Select item 738101	NM_001384125.1(BLTP1):c.1655-9C>A	BLTP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2655064	NM_001384125.1(BLTP1):c.1918G>A (p.Val640Ile)	BLTP1 (V640I)	Single nucleotide variant (missense variant)	BLTP1-related disorder +1 more	GLikely benign
Select item 3035631	NM_001384125.1(BLTP1):c.2250A>G (p.Glu750=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2655065	NM_001384125.1(BLTP1):c.2736C>T (p.Tyr912=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GLikely benign
Select item 3030783	NM_001384125.1(BLTP1):c.2772A>C (p.Thr924=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3029656	NM_001384125.1(BLTP1):c.2919C>T (p.Ser973=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1309577	NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser)	BLTP1 (P979S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3047067	NM_001384125.1(BLTP1):c.3180A>C (p.Ala1060=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3034376	NM_001384125.1(BLTP1):c.3396C>T (p.Gly1132=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GBenign
Select item 3032858	NM_001384125.1(BLTP1):c.3762A>G (p.Ser1254=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3054976	NM_001384125.1(BLTP1):c.4032T>C (p.Asp1344=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3030258	NM_001384125.1(BLTP1):c.4092A>T (p.Ser1364=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3053931	NM_001384125.1(BLTP1):c.4221T>C (p.Asp1407=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1294860	NM_001384125.1(BLTP1):c.4494C>T (p.Pro1498=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1033764	NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr)	BLTP1 (I1513T)	Single nucleotide variant (missense variant)	BLTP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3049012	NM_001384125.1(BLTP1):c.4749G>A (p.Pro1583=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GBenign
Select item 1225939	NM_001384125.1(BLTP1):c.4916+4T>G	BLTP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 741820	NM_001384125.1(BLTP1):c.4917-5dup	BLTP1	Duplication (intron variant)	BLTP1-related disorder +1 more	GBenign/Likely benign
Select item 3054613	NM_001384125.1(BLTP1):c.5076G>A (p.Glu1692=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3048156	NM_001384125.1(BLTP1):c.5126C>T (p.Thr1709Ile)	BLTP1 (T1709I)	Single nucleotide variant (missense variant)	BLTP1-related disorder	GLikely benign
Select item 1253905	NM_001384125.1(BLTP1):c.5361A>G (p.Ser1787=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3046873	NM_001384125.1(BLTP1):c.5711-11del	BLTP1	Deletion (intron variant)	BLTP1-related disorder	GLikely benign
Select item 3039445	NM_001384125.1(BLTP1):c.5784T>C (p.Gly1928=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GBenign
Select item 1258078	NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu)	BLTP1 (D1951E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 782993	NM_001384125.1(BLTP1):c.6081G>A (p.Leu2027=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GBenign/Likely benign
Select item 718050	NM_001384125.1(BLTP1):c.6160T>C (p.Leu2054=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GBenign
Select item 1241788	NM_001384125.1(BLTP1):c.6315A>G (p.Leu2105=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GBenign
Select item 3037388	NM_001384125.1(BLTP1):c.6378+10T>C	BLTP1	Single nucleotide variant (intron variant)	BLTP1-related disorder	GBenign
Select item 3045197	NM_001384125.1(BLTP1):c.6381C>T (p.Ser2127=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3045236	NM_001384125.1(BLTP1):c.6963T>C (p.Ser2321=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3029999	NM_001384125.1(BLTP1):c.7209A>G (p.Gln2403=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2616854	NM_001384125.1(BLTP1):c.7613C>A (p.Ala2538Asp)	BLTP1 (A2538D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1229405	NM_001384125.1(BLTP1):c.8787G>A (p.Gln2929=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GBenign
Select item 3053512	NM_001384125.1(BLTP1):c.8854A>G (p.Thr2952Ala)	BLTP1 (T2952A)	Single nucleotide variant (missense variant)	BLTP1-related disorder	GLikely benign
Select item 3057880	NM_001384125.1(BLTP1):c.8991G>A (p.Leu2997=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2634744	NM_001384125.1(BLTP1):c.9188A>G (p.His3063Arg)	BLTP1 (H3063R)	Single nucleotide variant (missense variant)	BLTP1-related disorder +1 more	GUncertain significance
Select item 3039112	NM_001384125.1(BLTP1):c.9201G>A (p.Ser3067=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2433109	NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly)	BLTP1 (V3070G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3045264	NM_001384125.1(BLTP1):c.9568C>T (p.Arg3190Ter)	BLTP1 (R3190*)	Single nucleotide variant (nonsense)	BLTP1-related disorder	GLikely pathogenic
Select item 3035679	NM_001384125.1(BLTP1):c.9672+8C>T	BLTP1	Single nucleotide variant (intron variant)	BLTP1-related disorder	GLikely benign
Select item 3032416	NM_001384125.1(BLTP1):c.9732A>G (p.Gly3244=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2630724	NM_001384125.1(BLTP1):c.10312+2T>C	BLTP1	Single nucleotide variant (splice donor variant)	BLTP1-related disorder	GLikely pathogenic
Select item 716370	NM_001384125.1(BLTP1):c.11043C>T (p.Tyr3681=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057929	NM_001384125.1(BLTP1):c.11342G>C (p.Cys3781Ser)	BLTP1 (C3693S +1 more)	Single nucleotide variant (missense variant)	BLTP1-related disorder +1 more	GUncertain significance
Select item 2655067	NM_001384125.1(BLTP1):c.11393C>T (p.Pro3798Leu)	BLTP1 (P3710L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2629793	NM_001384125.1(BLTP1):c.11396T>C (p.Phe3799Ser)	BLTP1 (F3711S +1 more)	Single nucleotide variant (missense variant)	BLTP1-related disorder	GUncertain significance
Select item 2631691	NM_001384125.1(BLTP1):c.11513+1G>C	BLTP1	Single nucleotide variant (splice donor variant)	BLTP1-related disorder	GLikely pathogenic
Select item 3060413	NM_001384125.1(BLTP1):c.11572C>T (p.Arg3858Cys)	BLTP1 (R3770C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3030381	NM_001384125.1(BLTP1):c.11904T>C (p.Asp3968=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 2563958	NM_001384125.1(BLTP1):c.12277G>C (p.Val4093Leu)	BLTP1 (V4005L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2655068	NM_001384125.1(BLTP1):c.12354G>A (p.Ser4118=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GLikely benign
Select item 3029073	NM_001384125.1(BLTP1):c.12514C>T (p.Leu4172=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3058497	NM_001384125.1(BLTP1):c.12981G>A (p.Thr4327=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1306950	NM_001384125.1(BLTP1):c.13162A>G (p.Ile4388Val)	BLTP1 (I4300V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1244782	NM_001384125.1(BLTP1):c.13318A>G (p.Thr4440Ala)	BLTP1 (T4352A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3040334	NM_001384125.1(BLTP1):c.13941A>G (p.Val4647=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 3054209	NM_001384125.1(BLTP1):c.13989G>A (p.Lys4663=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1294870	NM_001384125.1(BLTP1):c.14073G>A (p.Lys4691=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2655069	NM_001384125.1(BLTP1):c.14166A>G (p.Ser4722=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GLikely benign
Select item 776016	NM_001384125.1(BLTP1):c.14511C>T (p.Pro4837=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder +1 more	GBenign/Likely benign
Select item 3045483	NM_001384125.1(BLTP1):c.14589T>C (p.Asn4863=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign
Select item 1239628	NM_001384125.1(BLTP1):c.14620A>G (p.Thr4874Ala)	BLTP1 (T4786A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3052072	NM_001384125.1(BLTP1):c.14957T>C (p.Ile4986Thr)	BLTP1 (I4898T +1 more)	Single nucleotide variant (missense variant)	BLTP1-related disorder +1 more	GLikely benign
Select item 3034170	NM_001384125.1(BLTP1):c.15267C>T (p.Asp5089=)	BLTP1	Single nucleotide variant (synonymous variant)	BLTP1-related disorder	GLikely benign

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Items: 75