"Invitae"[submitter] AND "LIPE"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708992	NM_005357.4(LIPE):c.3172G>C (p.Gly1058Arg)	LIPE, LIPE-AS1 +1 more (G1058R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 795997	NM_005357.4(LIPE):c.3165C>T (p.Ala1055=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719524	NM_005357.4(LIPE):c.2880C>T (p.Tyr960=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 778844	NM_005357.4(LIPE):c.2812C>A (p.Arg938Ser)	LIPE, LIPE-AS1 +1 more (R938S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708271	NM_005357.4(LIPE):c.2662T>C (p.Ser888Pro)	LIPE, LIPE-AS1 +1 more (S888P)	Single nucleotide variant (missense variant)	LIPE-related condition +1 more	GBenign
Select item 729455	NM_005357.4(LIPE):c.2655C>T (p.Ser885=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778845	NM_005357.4(LIPE):c.2262G>A (p.Pro754=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708902	NM_005357.4(LIPE):c.2224G>A (p.Gly742Arg)	LIPE, LIPE-AS1 +1 more (G742R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 790436	NM_005357.4(LIPE):c.2223C>T (p.Tyr741=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 731850	NM_005357.4(LIPE):c.1989C>T (p.His663=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736654	NM_005357.4(LIPE):c.1929G>A (p.Ser643=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778846	NM_005357.4(LIPE):c.1905G>A (p.Pro635=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738457	NM_005357.4(LIPE):c.1788A>G (p.Thr596=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784550	NM_005357.4(LIPE):c.1677G>A (p.Ser559=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708847	NM_005357.4(LIPE):c.1638C>T (p.Thr546=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 723327	NM_005357.4(LIPE):c.1626C>T (p.Phe542=)	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737169	NM_005357.4(LIPE):c.1561G>A (p.Glu521Lys)	LOC101930071, LIPE +1 more (E521K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728899	NM_005357.4(LIPE):c.1555G>A (p.Asp519Asn)	LIPE, LIPE-AS1 +1 more (D519N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 797360	NM_005357.4(LIPE):c.1510+8C>T	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778601	NM_005357.4(LIPE):c.1495A>C (p.Asn499His)	LIPE, LIPE-AS1 +1 more (N499H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708000	NM_005357.4(LIPE):c.1491A>T (p.Lys497Asn)	LIPE, LIPE-AS1 +1 more (K497N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742140	NM_005357.4(LIPE):c.1338C>T (p.Asp446=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712337	NM_005357.4(LIPE):c.1210C>T (p.Arg404Cys)	LIPE, LIPE-AS1 (R404C)	Single nucleotide variant (missense variant)	LIPE-related condition +2 more	GBenign/Likely benign
Select item 393281	NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)	LIPE-AS1, LIPE (R333Q)	Single nucleotide variant (missense variant)	LIPE-related condition +2 more	GConflicting classifications of pathogenicity
Select item 710784	NM_005357.4(LIPE):c.581C>T (p.Ala194Val)	LIPE, LIPE-AS1 (A194V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 781488	NM_005357.4(LIPE):c.551C>A (p.Ser184Ter)	LIPE, LIPE-AS1 (S184*)	Single nucleotide variant (nonsense)	LIPE-related familial partial lipodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 742549	NM_005357.4(LIPE):c.522A>G (p.Glu174=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716480	NM_005357.4(LIPE):c.436C>T (p.Pro146Ser)	LIPE, LIPE-AS1 (P146S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723328	NM_005357.4(LIPE):c.295C>T (p.Pro99Ser)	LIPE, LIPE-AS1 (P99S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720457	NM_005357.4(LIPE):c.280G>A (p.Ala94Thr)	LIPE, LIPE-AS1 (A94T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 742550	NM_005357.4(LIPE):c.167G>A (p.Arg56Lys)	LIPE, LIPE-AS1 (R56K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 791657	NM_005357.4(LIPE):c.117G>A (p.Ser39=)	LIPE, LIPE-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance

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Items: 33