C4693347[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2433110	NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro)	BLTP1 (L1130P)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
Select item 1323144	NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter)	BLTP1 (R1430*)	Duplication (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
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 2433105	NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala)	BLTP1 (P2905A)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance
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 2433109	NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly)	BLTP1 (V3070G)	Single nucleotide variant (missense variant)	BLTP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1323143	NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer)	BLTP1	Duplication (frameshift variant)	Alkuraya-Kucinskas syndrome	GPathogenic
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 2433108	NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr)	BLTP1 (I3484T)	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 2440990	NM_001384125.1(BLTP1):c.10872-1G>C	BLTP1	Single nucleotide variant (splice acceptor variant)	Alkuraya-Kucinskas syndrome	GLikely pathogenic
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 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 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 2433104	NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg)	BLTP1 (G4891R +1 more)	Single nucleotide variant (missense variant)	Alkuraya-Kucinskas syndrome	GUncertain significance