LTV1[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494066	NM_032860.5(LTV1):c.86T>C (p.Leu29Ser)	LTV1 (L29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527610	NM_032860.5(LTV1):c.113G>T (p.Arg38Met)	LTV1 (R38M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292299	NM_032860.5(LTV1):c.157G>A (p.Ala53Thr)	LTV1 (A53T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2214089	NM_032860.5(LTV1):c.202T>A (p.Tyr68Asn)	LTV1 (Y68N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233224	NM_032860.5(LTV1):c.218A>G (p.Lys73Arg)	LTV1 (K73R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559805	NM_032860.5(LTV1):c.457G>A (p.Asp153Asn)	LTV1 (D153N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121531	NM_032860.5(LTV1):c.475C>T (p.Leu159Phe)	LTV1 (L159F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2443758	NM_032860.5(LTV1):c.503A>G (p.Asn168Ser)	LTV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory poikiloderma with hair abnormalities and acral keratoses	GPathogenic
Select item 2482796	NM_032860.5(LTV1):c.587A>T (p.Glu196Val)	LTV1 (E196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121532	NM_032860.5(LTV1):c.590A>G (p.Lys197Arg)	LTV1 (K18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599889	NM_032860.5(LTV1):c.590A>C (p.Lys197Thr)	LTV1 (K18T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323853	NM_032860.5(LTV1):c.620C>A (p.Ala207Glu)	LTV1 (A207E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292300	NM_032860.5(LTV1):c.716G>A (p.Arg239His)	LTV1 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320089	NM_032860.5(LTV1):c.724G>A (p.Glu242Lys)	LTV1 (E63K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216117	NM_032860.5(LTV1):c.779A>T (p.Asp260Val)	LTV1 (D81V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771406	NM_032860.5(LTV1):c.882A>G (p.Leu294=)	LTV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512862	NM_032860.5(LTV1):c.908A>T (p.Lys303Ile)	LTV1 (K124I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792059	NM_032860.5(LTV1):c.952T>C (p.Leu318=)	LTV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299612	NM_032860.5(LTV1):c.1031C>T (p.Ala344Val)	LTV1 (A165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540918	NM_032860.5(LTV1):c.1033A>G (p.Lys345Glu)	LTV1 (K166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714344	NM_032860.5(LTV1):c.1034A>G (p.Lys345Arg)	LTV1 (K345R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2485696	NM_032860.5(LTV1):c.1130G>A (p.Arg377Gln)	LTV1 (R377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376195	NM_032860.5(LTV1):c.1196C>T (p.Thr399Ile)	LTV1 (T220I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3121530	NM_032860.5(LTV1):c.1205T>C (p.Ile402Thr)	LTV1 (I402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356154	NM_032860.5(LTV1):c.1256C>G (p.Ser419Cys)	LTV1 (S419C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218163	NM_032860.5(LTV1):c.1313G>A (p.Arg438His)	LTV1 (R259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371224	NM_032860.5(LTV1):c.1400A>G (p.Lys467Arg)	LTV1 (K288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27