PNPLA6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	ARHGEF18, ARHGEF18-AS1 +75 more	Copy number gain	See cases	GUncertain significance
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 894185	NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)	MCOLN1, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 894598	NM_006702.4(PNPLA6):c.-298T>C	PNPLA6	Single nucleotide variant	Hereditary spastic paraplegia 39	GUncertain significance
Select item 369302	NM_006702.5(PNPLA6):c.-261T>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39 +2 more	GBenign
Select item 369303	NM_006702.5(PNPLA6):c.-214C>T	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 892571	NM_006702.5(PNPLA6):c.-200C>T	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1526319	NM_006702.5(PNPLA6):c.-196+90C>T	PNPLA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 330508	NM_006702.5(PNPLA6):c.-122G>A	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 892572	NM_006702.5(PNPLA6):c.-99A>C	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 330509	NM_006702.5(PNPLA6):c.-96A>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 330510	NM_006702.5(PNPLA6):c.-53T>C	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 509719	NM_006702.5(PNPLA6):c.-43+3G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 1700443	NM_006702.5(PNPLA6):c.-43+215A>T	PNPLA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234448	NM_006702.5(PNPLA6):c.-43+220T>C	PNPLA6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1621621	NM_006702.5(PNPLA6):c.6G>A (p.Glu2=)	LOC130063377, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2768502	NM_006702.5(PNPLA6):c.7G>A (p.Ala3Thr)	LOC130063377, PNPLA6 (A3T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 330511	NM_006702.5(PNPLA6):c.10C>T (p.Pro4Ser)	LOC130063377, PNPLA6 (P4S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 866303	NM_006702.5(PNPLA6):c.11C>A (p.Pro4Gln)	LOC130063377, PNPLA6 (P4Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 2018933	NM_006702.5(PNPLA6):c.12G>A (p.Pro4=)	LOC130063377, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 843409	NM_006702.5(PNPLA6):c.13_14delinsGG (p.Leu5Gly)	LOC130063377, PNPLA6 (L5G)	Indel (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 935764	NM_006702.5(PNPLA6):c.14T>A (p.Leu5Gln)	LOC130063377, PNPLA6 (L5Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1716898	NM_006702.5(PNPLA6):c.23G>A (p.Gly8Glu)	PNPLA6, LOC130063377 (G8E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2202447	NM_006702.5(PNPLA6):c.26T>C (p.Met9Thr)	LOC130063377, PNPLA6 (M9T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1564071	NM_006702.5(PNPLA6):c.27+11G>C	PNPLA6, LOC130063377	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2820861	NM_006702.5(PNPLA6):c.27+14C>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1583042	NM_006702.5(PNPLA6):c.27+14C>T	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2708945	NM_006702.5(PNPLA6):c.27+18G>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1295439	NM_006702.5(PNPLA6):c.27+41G>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298209	NM_006702.5(PNPLA6):c.27+77C>G	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193737	NM_006702.5(PNPLA6):c.27+86T>A	PNPLA6, LOC130063377	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679717	NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	PNPLA6 (T10R +1 more)	Single nucleotide variant (missense variant +1 more)	Ataxia-hypogonadism-choroidal dystrophy syndrome +3 more	GUncertain significance
Select item 1027427	NM_001166114.2(PNPLA6):c.43dup (p.Ala15fs)	PNPLA6 (A15fs +1 more)	Duplication (frameshift variant +1 more)	Spastic ataxia	GPathogenic
Select item 504234	NM_001166114.2(PNPLA6):c.38C>A (p.Ser13Ter)	PNPLA6 (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1064517	NM_001166114.2(PNPLA6):c.46A>T (p.Lys16Ter)	PNPLA6 (K16* +1 more)	Single nucleotide variant (nonsense +1 more)	Peripheral precocious puberty	GUncertain significance
Select item 993835	NM_001166114.2(PNPLA6):c.124C>T (p.Pro42Ser)	PNPLA6 (P42S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1630158	NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser)	PNPLA6 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 893384	NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)	PNPLA6 (P44L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GConflicting classifications of pathogenicity
Select item 2104031	NM_001166114.2(PNPLA6):c.136G>T (p.Val46Phe)	PNPLA6 (V46F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2128472	NM_001166114.2(PNPLA6):c.138C>T (p.Val46=)	PNPLA6	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1544164	NM_001166114.2(PNPLA6):c.139C>T (p.Pro47Ser)	PNPLA6 (P47S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2414035	NM_001166114.2(PNPLA6):c.140C>T (p.Pro47Leu)	PNPLA6 (P47L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 944016	NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe)	PNPLA6 (L50F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1944899	NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)	PNPLA6 (V13M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2709725	NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1052610	NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup)	PNPLA6	Duplication (inframe_insertion)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 240702	NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)	PNPLA6	Single nucleotide variant (synonymous variant)	PNPLA6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2064966	NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)	PNPLA6 (A17S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 937022	NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg)	PNPLA6 (G66R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 469623	NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 281419	NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)	MCOLN1, PNPLA6 (V19A +2 more)	Single nucleotide variant (missense variant)	Mucolipidosis type IV +4 more	GBenign/Likely benign
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome +8 more	GBenign/Likely benign
Select item 330512	NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)	PNPLA6, MCOLN1	Single nucleotide variant (synonymous variant)	Spastic Paraplegia, Recessive +4 more	GBenign/Likely benign
Select item 893385	NM_001166114.2(PNPLA6):c.186C>G (p.Val62=)	PNPLA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1911706	NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)	PNPLA6 (T72M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1997938	NM_001166114.2(PNPLA6):c.192C>G (p.Ala64=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2132537	NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)	PNPLA6 (V74M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1345601	NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg)	PNPLA6 (L27R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 893386	NM_001166114.2(PNPLA6):c.198C>T (p.Leu66=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 938224	NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe)	PNPLA6 (L29F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2187080	NM_001166114.2(PNPLA6):c.207G>A (p.Leu69=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2759232	NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)	PNPLA6 (R72Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1533140	NM_001166114.2(PNPLA6):c.216G>C (p.Arg72=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1397570	NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly)	PNPLA6 (R82G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148912	NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)	PNPLA6 (R82S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1132688	NM_001166114.2(PNPLA6):c.220C>T (p.Leu74=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2130511	NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)	PNPLA6 (R84Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 392043	NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1046252	NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met)	PNPLA6 (V37M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 509801	NM_001166114.2(PNPLA6):c.232+14G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 2048202	NM_001166114.2(PNPLA6):c.232+15G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2080412	NM_001166114.2(PNPLA6):c.232+16G>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1255122	NM_001166114.2(PNPLA6):c.233-78T>C	PNPLA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300645	NM_001166114.2(PNPLA6):c.233-76T>C	PNPLA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765496	NM_001166114.2(PNPLA6):c.233-16C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1945588	NM_001166114.2(PNPLA6):c.233-16C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1596757	NM_001166114.2(PNPLA6):c.233-15C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1590041	NM_001166114.2(PNPLA6):c.233-13C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2102772	NM_001166114.2(PNPLA6):c.233-11C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 240690	NM_001166114.2(PNPLA6):c.233-8A>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 3216066	NM_001166114.2(PNPLA6):c.234A>C (p.Lys78Asn)	PNPLA6 (K87N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516269	NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser)	PNPLA6 (P89S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 1152533	NM_001166114.2(PNPLA6):c.240A>C (p.Pro80=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1132736	NM_001166114.2(PNPLA6):c.246G>A (p.Pro82=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2136970	NM_001166114.2(PNPLA6):c.252C>A (p.Gly84=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 706194	NM_001166114.2(PNPLA6):c.261T>C (p.Tyr87=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2811257	NM_001166114.2(PNPLA6):c.264G>A (p.Arg88=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 936817	NM_001166114.2(PNPLA6):c.266del (p.Phe89fs)	PNPLA6 (F98fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 1545809	NM_001166114.2(PNPLA6):c.267C>T (p.Phe89=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1091102	NM_001166114.2(PNPLA6):c.288C>T (p.Leu96=)	PNPLA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1146752	NM_001166114.2(PNPLA6):c.294T>C (p.Tyr98=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 894217	NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GConflicting classifications of pathogenicity
Select item 3216069	NM_001166114.2(PNPLA6):c.311G>A (p.Arg104Gln)	PNPLA6 (R65Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2714396	NM_001166114.2(PNPLA6):c.315+1G>T	PNPLA6	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 39	GLikely pathogenic
Select item 1106906	NM_001166114.2(PNPLA6):c.315+8C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2182833	NM_001166114.2(PNPLA6):c.315+13C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 330513	NM_001166114.2(PNPLA6):c.315+13C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 1598507	NM_001166114.2(PNPLA6):c.315+16C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign

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