"LPIN2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061070	NM_001375808.2(LPIN2):c.2677G>A (p.Asp893Asn)	LPIN2 (D893N)	Single nucleotide variant (missense variant)	LPIN2-related disorder	GUncertain significance
Select item 326632	NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)	LPIN2 (D891N)	Single nucleotide variant (missense variant)	LPIN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 234588	NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234343	NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)	LPIN2 (C874F)	Single nucleotide variant (missense variant)	Majeed syndrome +3 more	GConflicting classifications of pathogenicity
Select item 536356	NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +2 more	GLikely benign
Select item 138138	NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)	LPIN2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 387742	NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)	LPIN2	Single nucleotide variant (synonymous variant)	LPIN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 626132	NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234339	NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)	LPIN2 (S579P)	Single nucleotide variant (missense variant)	Majeed syndrome +3 more	GBenign/Likely benign
Select item 1430426	NM_001375808.2(LPIN2):c.1711-3C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GConflicting classifications of pathogenicity
Select item 97814	NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)	LPIN2 (L504F)	Single nucleotide variant (missense variant)	Majeed syndrome +4 more	GConflicting classifications of pathogenicity
Select item 326638	NM_001375808.2(LPIN2):c.1456+4C>G	LPIN2	Single nucleotide variant (intron variant)	LPIN2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 392372	NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +3 more	GLikely benign
Select item 378093	NM_001375808.2(LPIN2):c.1169-3C>T	LPIN2	Single nucleotide variant (intron variant)	LPIN2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 21520	NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)	LPIN2 (A331S)	Single nucleotide variant (missense variant)	Majeed syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1514031	NM_001375808.2(LPIN2):c.863C>T (p.Ala288Val)	LPIN2 (A288V)	Single nucleotide variant (missense variant)	Majeed syndrome +1 more	GUncertain significance
Select item 234329	NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)	LPIN2 (S203F)	Single nucleotide variant (missense variant)	Majeed syndrome +3 more	GBenign/Likely benign
Select item 1529760	NM_001375808.2(LPIN2):c.126C>T (p.Ser42=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +1 more	GLikely benign
Select item 326650	NM_001375808.2(LPIN2):c.-10+1381T>C	LPIN2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity