PNPLA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 452330	NM_001374623.1(PNPLA1):c.38del (p.Pro13fs)	PNPLA1 (P13fs)	Deletion (frameshift variant +1 more)	Lamellar ichthyosis +1 more	GLikely pathogenic
Select item 633796	NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp)	PNPLA1 (S19W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 2227352	NM_001374623.1(PNPLA1):c.86C>T (p.Ala29Val)	PNPLA1 (A29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 908038	NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=)	PNPLA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 908039	NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val)	PNPLA1 (A31V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 684637	NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp)	PNPLA1 (A31D)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 1691290	NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro)	PNPLA1 (A34P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 625427	NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr)	PNPLA1 (A34T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10 +1 more	GPathogenic
Select item 2749842	NM_001374623.1(PNPLA1):c.119C>T (p.Pro40Leu)	PNPLA1 (P40L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3216029	NM_001374623.1(PNPLA1):c.142C>T (p.Arg48Cys)	PNPLA1 (R48C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 633797	NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu)	PNPLA1 (A50E)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 684646	NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro)	PNPLA1 (S53P)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 3336275	NM_001374623.1(PNPLA1):c.158C>T (p.Ser53Leu)	PNPLA1 (S53L)	Single nucleotide variant (missense variant +1 more)	Lamellar ichthyosis	GLikely pathogenic
Select item 684647	NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp)	PNPLA1 (S53W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10 +1 more	GPathogenic/Likely pathogenic
Select item 716455	NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=)	PNPLA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2992626	NM_001374623.1(PNPLA1):c.161C>A (p.Ala54Glu)	PNPLA1 (A54E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992627	NM_001374623.1(PNPLA1):c.169G>T (p.Val57Leu)	PNPLA1 (V57L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2253984	NM_001374623.1(PNPLA1):c.175G>A (p.Ala59Thr)	PNPLA1 (A59T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 39562	NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val)	PNPLA1 (A59V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GPathogenic
Select item 1705673	NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)	PNPLA1 (A60T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 2681493	NM_001374623.1(PNPLA1):c.193G>A (p.Gly65Arg)	PNPLA1 (G65R)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 633800	NM_001374623.1(PNPLA1):c.205+5G>A	PNPLA1	Single nucleotide variant (intron variant)	Lamellar ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 1268178	NM_001374623.1(PNPLA1):c.205+210G>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282783	NM_001374623.1(PNPLA1):c.206-162T>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 904729	NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=)	PNPLA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 904730	NM_001374623.1(PNPLA1):c.231G>C (p.Val77=)	PNPLA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 2322402	NM_001374623.1(PNPLA1):c.233G>T (p.Gly78Val)	PNPLA1 (G78V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 356555	NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met)	PNPLA1 (V79M)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 3046860	NM_001374623.1(PNPLA1):c.240C>T (p.Ala80=)	PNPLA1	Single nucleotide variant (5 prime UTR variant +1 more)	PNPLA1-related disorder	GLikely benign
Select item 375259	NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu)	PNPLA1 (P89L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 2136383	NM_001374623.1(PNPLA1):c.275del (p.Pro92fs)	PNPLA1 (P92fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 904731	NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=)	PNPLA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 2867287	NM_001374623.1(PNPLA1):c.302G>C (p.Arg101Thr)	PNPLA1 (R101T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726393	NM_001374623.1(PNPLA1):c.303G>A (p.Arg101=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 904732	NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 3216033	NM_001374623.1(PNPLA1):c.317G>A (p.Arg106Gln)	PNPLA1 (R106Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 795188	NM_001374623.1(PNPLA1):c.327C>G (p.Pro109=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348568	NM_001374623.1(PNPLA1):c.328G>A (p.Glu110Lys)	PNPLA1 (E15K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375258	NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr)	PNPLA1 (S112Y +1 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma +1 more	GPathogenic/Likely pathogenic
Select item 3368112	NM_001374623.1(PNPLA1):c.347C>T (p.Thr116Ile)	PNPLA1 (T116I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375257	NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met)	PNPLA1 (T117M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684641	NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro)	PNPLA1 (H121P +1 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 356556	NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437456	NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn)	PNPLA1 (T125N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 1700562	NM_001374623.1(PNPLA1):c.376C>G (p.Arg126Gly)	PNPLA1 (R126G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 904733	NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys)	PNPLA1 (T33K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 444682	NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)	PNPLA1 (T33M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GConflicting classifications of pathogenicity
Select item 617846	NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)	PNPLA1 (D34E +1 more)	Single nucleotide variant (missense variant)	Ichthyosis +1 more	GPathogenic
Select item 39561	NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter)	PNPLA1 (E131* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 10	GPathogenic
Select item 3335972	NM_001374623.1(PNPLA1):c.417_418delinsTC (p.Ser140Pro)	PNPLA1 (S140P +1 more)	Indel (missense variant)	Lamellar ichthyosis	GPathogenic
Select item 739013	NM_001374623.1(PNPLA1):c.417G>A (p.Thr139=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 375256	NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)	PNPLA1 (S140P +1 more)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +1 more	GPathogenic/Likely pathogenic
Select item 684645	NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu)	PNPLA1 (K46E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GPathogenic
Select item 1723258	NM_001374623.1(PNPLA1):c.434T>C (p.Ile145Thr)	PNPLA1 (I145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735970	NM_001374623.1(PNPLA1):c.438+8G>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356557	NM_001374623.1(PNPLA1):c.438+10C>T	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 1234762	NM_001374623.1(PNPLA1):c.438+34A>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241864	NM_001374623.1(PNPLA1):c.438+137A>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232579	NM_001374623.1(PNPLA1):c.439-309A>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290622	NM_001374623.1(PNPLA1):c.439-252G>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356558	NM_001374623.1(PNPLA1):c.439-7C>T	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 905518	NM_001374623.1(PNPLA1):c.439-6G>A	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 2782330	NM_001374623.1(PNPLA1):c.439-2A>G	PNPLA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 684639	NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg)	PNPLA1 (C150R +1 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GPathogenic
Select item 257572	NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 684636	NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu)	PNPLA1 (P155L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GLikely pathogenic
Select item 3035752	NM_001374623.1(PNPLA1):c.474T>C (p.Cys158=)	PNPLA1	Single nucleotide variant (synonymous variant)	PNPLA1-related disorder	GLikely benign
Select item 2627968	NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)	PNPLA1 (P163T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 2579650	NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)	PNPLA1 (P163L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1332876	NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)	PNPLA1 (R166C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +3 more	GConflicting classifications of pathogenicity
Select item 2455524	NM_001374623.1(PNPLA1):c.499G>T (p.Gly167Cys)	PNPLA1 (G167C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 257573	NM_001374623.1(PNPLA1):c.504+11C>T	PNPLA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1257631	NM_001374623.1(PNPLA1):c.504+105A>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235822	NM_001374623.1(PNPLA1):c.505-297T>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278948	NM_001374623.1(PNPLA1):c.505-82A>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3216034	NM_001374623.1(PNPLA1):c.507G>T (p.Arg169Ser)	PNPLA1 (R169S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 684638	NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn)	PNPLA1 (D172N +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2577346	NM_001374623.1(PNPLA1):c.527C>T (p.Thr176Met)	PNPLA1 (T176M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700337	NM_001374623.1(PNPLA1):c.527C>G (p.Thr176Arg)	PNPLA1 (T176R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791144	NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GBenign/Likely benign
Select item 905519	NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10	GConflicting classifications of pathogenicity
Select item 633798	NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu)	PNPLA1 (P110L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GConflicting classifications of pathogenicity
Select item 356559	NM_001374623.1(PNPLA1):c.627C>T (p.His209=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GBenign/Likely benign
Select item 451071	NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg)	PNPLA1 (C121R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1180808	NM_001374623.1(PNPLA1):c.670A>G (p.Asn224Asp)	PNPLA1 (N129D +2 more)	Single nucleotide variant (missense variant)	Abnormality of the skin	GLikely pathogenic
Select item 356560	NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 709393	NM_001374623.1(PNPLA1):c.690C>T (p.His230=)	PNPLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 356561	NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr)	PNPLA1 (A231T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 684644	NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)	PNPLA1 (P140L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2206413	NM_001374623.1(PNPLA1):c.707A>T (p.Asp236Val)	PNPLA1 (D141V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1234849	NM_001374623.1(PNPLA1):c.714+182C>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248311	NM_001374623.1(PNPLA1):c.714+206C>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265240	NM_001374623.1(PNPLA1):c.714+287C>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249023	NM_001374623.1(PNPLA1):c.714+307G>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277331	NM_001374623.1(PNPLA1):c.715-214A>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243438	NM_001374623.1(PNPLA1):c.715-201G>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249564	NM_001374623.1(PNPLA1):c.715-150C>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 906028	NM_001374623.1(PNPLA1):c.715-10C>T	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 356562	NM_001374623.1(PNPLA1):c.715-9C>T	PNPLA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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