Related gene-specific medical variations for Gene (Select 9663) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064410	NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)	LPIN2 (T624fs)	Deletion (frameshift variant)	Majeed syndrome	GLikely pathogenic
Select item 2689378	NM_001375808.2(LPIN2):c.2609C>T (p.Ser870Phe)	LPIN2 (S870F)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433507	NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu)	LPIN2 (P230L)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433505	NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val)	LPIN2 (L639V)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433504	NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr)	LPIN2 (A379T)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433503	NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys)	LPIN2 (E208K)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433502	NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys)	LPIN2 (Y666C)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2433501	NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro)	LPIN2 (S199P)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 2428598	NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)	LPIN2 (E211Q)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 1330687	NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu)	LPIN2 (S849L)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 994407	NM_001375808.2(LPIN2):c.1710+16G>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome	GLikely benign
Select item 994032	NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile)	LPIN2 (T323I)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 811755	NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr)	LPIN2 (H283Y)	Single nucleotide variant (missense variant)	Majeed syndrome	GUncertain significance
Select item 808344	NM_001375808.2(LPIN2):c.704A>G (p.Tyr235Cys)	LPIN2 (Y235C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618704	NM_001375808.2(LPIN2):c.1046C>G (p.Pro349Arg)	LPIN2 (P349R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618198	NM_001375808.2(LPIN2):c.1868C>T (p.Pro623Leu)	LPIN2 (P623L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138139	NM_014646.2:c.+3C>T	LPIN2	Single nucleotide variant	not provided	GBenign
Select item 41250	NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs)	LPIN2 (S439fs)	Microsatellite (frameshift variant)	Majeed syndrome	Gnot provided