"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PNPLA6"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330504	NM_020533.3(MCOLN1):c.1360-13G>A	MCOLN1, PNPLA6	Single nucleotide variant (intron variant)	Spastic Paraplegia, Recessive +2 more	GBenign/Likely benign
Select item 240695	NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr)	LOC130063377, PNPLA6 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 2683474	NM_001166114.2(PNPLA6):c.335C>T (p.Ser112Phe)	PNPLA6 (S112F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047195	NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser)	PNPLA6 (A118S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956407	NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu)	PNPLA6 (P199L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 1463040	NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg)	PNPLA6 (K355R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586351	NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr)	PNPLA6 (A414T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 547855	NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)	PNPLA6 (A459T +2 more)	Single nucleotide variant (missense variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +3 more	GUncertain significance
Select item 330523	NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys)	PNPLA6 (R493C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 425159	NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)	PNPLA6 (V749M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 537335	NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg)	PNPLA6 (G792R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 1162826	NM_001166114.2(PNPLA6):c.2696G>A (p.Arg899Gln)	PNPLA6 (R834Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683056	NM_001166114.2(PNPLA6):c.2936+2T>G	PNPLA6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 581260	NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)	PNPLA6 (G942A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 240694	NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)	PNPLA6 (S994T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1162827	NM_001166114.2(PNPLA6):c.3172C>T (p.Arg1058Cys)	PNPLA6 (R1020C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1693731	NM_001166114.2(PNPLA6):c.3209A>G (p.Glu1070Gly)	PNPLA6 (E1005G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162828	NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys)	PNPLA6 (R1287C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance