ClinVar for MedGen (Select 1634304) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065053	NM_001384125.1(BLTP1):c.1654G>A (p.Val552Met)	BLTP1 (V552M)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 3063996	NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter)	BLTP1 (R1309*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 2692503	NM_001384125.1(BLTP1):c.1752+2T>G	BLTP1	Single nucleotide variant (splice donor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2628040	NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter)	BLTP1 (Y1584*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2581689	NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)	BLTP1 (R2914*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 2579734	NM_001384125.1(BLTP1):c.2171A>G (p.His724Arg)	BLTP1 (H724R)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2579733	NM_001384125.1(BLTP1):c.1957G>T (p.Val653Phe)	BLTP1 (V653F)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2576960	NM_001384125.1(BLTP1):c.12997G>A (p.Ala4333Thr)	BLTP1 (A4245T +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 2504643	NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu)	BLTP1 (G437E)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2445992	NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala)	BLTP1 (P433A)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2440993	NM_001384125.1(BLTP1):c.4916+2T>C	BLTP1	Single nucleotide variant (splice donor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2440990	NM_001384125.1(BLTP1):c.10872-1G>C	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2440988	NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter)	BLTP1 (R258*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 2433111	NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys)	BLTP1 (R3028C)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433110	NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro)	BLTP1 (L1130P)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433109	NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly)	BLTP1 (V3070G)	Single nucleotide variant (missense variant)	BLTP1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2433108	NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr)	BLTP1 (I3484T)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433107	NM_001384125.1(BLTP1):c.901+49_901+53dup	BLTP1	Duplication (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433106	NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile)	BLTP1 (V770I)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433105	NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala)	BLTP1 (P2905A)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433104	NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg)	BLTP1 (G4891R +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433103	NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr)	BLTP1 (S4143T +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433102	NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser)	BLTP1 (T3360S)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433100	NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp)	BLTP1 (R3796W +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 2433099	NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu)	BLTP1 (P3528L +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1806311	NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu)	BLTP1 (D3074E)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1806158	NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr)	BLTP1 (S4383T +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1806031	NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val)	BLTP1 (M4656V +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1805678	NM_001384125.1(BLTP1):c.10741-5T>C	BLTP1	Single nucleotide variant (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1705258	NM_001384125.1(BLTP1):c.12617-2A>G	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 1679595	NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr)	BLTP1 (D998Y)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +1 more	GUncertain significance
Select item 1679594	NM_001384125.1(BLTP1):c.2209_2247+201dup	BLTP1	Duplication (splice donor variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1527970	NM_001384125.1(BLTP1):c.13702+3A>G	BLTP1	Single nucleotide variant (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1338857	NM_001384125.1(BLTP1):c.11368C>T (p.Pro3790Ser)	BLTP1 (P3702S +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1338856	NM_001384125.1(BLTP1):c.2783C>T (p.Thr928Ile)	BLTP1 (T928I)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1324618	NM_001384125.1(BLTP1):c.11413C>T (p.Arg3805Ter)	BLTP1 (R3717* +1 more)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 1323144	NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter)	BLTP1 (R1430*)	Duplication (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 1323143	NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer)	BLTP1	Duplication (frameshift variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 1301723	NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp)	BLTP1 (R50W)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +1 more	GUncertain significance
Select item 1281270	NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271909	NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252049	NM_001384125.1(BLTP1):c.11514-1G>A	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 1252048	NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter)	BLTP1 (E4023* +1 more)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 1244128	NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=)	BLTP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1229367	NM_001384125.1(BLTP1):c.2475+17G>C	BLTP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1064576	NM_001384125.1(BLTP1):c.10994G>A (p.Arg3665Gln)	BLTP1 (R3598Q +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1064575	NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser)	BLTP1 (G1016S)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +1 more	GUncertain significance
Select item 1033767	NM_001384125.1(BLTP1):c.9225A>C (p.Glu3075Asp)	BLTP1 (E3075D)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1033766	NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr)	BLTP1 (I2804T)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome +2 more	GUncertain significance
Select item 1033765	NM_001384125.1(BLTP1):c.822-3T>C	BLTP1	Single nucleotide variant (intron variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1033764	NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr)	BLTP1 (I1513T)	Single nucleotide variant (missense variant)	BLTP1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1033763	NM_001384125.1(BLTP1):c.4064C>T (p.Ser1355Leu)	BLTP1 (S1355L)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1033762	NM_001384125.1(BLTP1):c.13909C>G (p.His4637Asp)	BLTP1 (H4637D +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1033761	NM_001384125.1(BLTP1):c.12610A>C (p.Ile4204Leu)	BLTP1 (I4116L +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1033760	NM_001384125.1(BLTP1):c.12407G>A (p.Arg4136Gln)	BLTP1 (R4136Q +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1030490	NM_001384125.1(BLTP1):c.4533G>C (p.Gln1511His)	BLTP1 (Q1511H)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1030489	NM_001384125.1(BLTP1):c.3263del (p.His1088fs)	BLTP1 (H1088fs)	Deletion (frameshift variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 982422	NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr)	BLTP1 (H3815Y +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 982421	NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn)	BLTP1 (K4788N +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 930607	NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys)	BLTP1 (S1373C)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 930606	NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter)	BLTP1 (R386*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 929835	NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala)	BLTP1 (T811A)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 809676	NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg)	BLTP1 (P192R)	Single nucleotide variant (missense variant)	BLTP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 804447	NM_001384125.1(BLTP1):c.1381-2A>G	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
Select item 800986	NM_001384125.1(BLTP1):c.1183del (p.Ile395fs)	BLTP1 (I395fs)	Deletion (frameshift variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 523045	NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys)	BLTP1 (R147C)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 487551	NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg)	BLTP1 (G3385R)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 487550	NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys)	BLTP1 (R968C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 487549	NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs)	BLTP1 (N1204fs)	Deletion (frameshift variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 487548	NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met)	BLTP1 (V1867M)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 487547	NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)	BLTP1 (Y1329C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 183349	NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	BLTP1 (Y519*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome +6 more	GPathogenic/Likely pathogenic

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Items: 72