ClinVar for Gene (Select 285848) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	CPNE5, C6orf89 +18 more	Deletion	not provided	GPathogenic
Select item 3246149	NC_000006.11:g.(?_36259077)_(36262196_?)del	PNPLA1	Deletion	not provided	GPathogenic
Select item 3216039	NM_001374623.1(PNPLA1):c.983T>C (p.Val328Ala)	PNPLA1 (V328A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216037	NM_001374623.1(PNPLA1):c.899G>A (p.Arg300Gln)	PNPLA1 (R300Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216036	NM_001374623.1(PNPLA1):c.898C>T (p.Arg300Trp)	PNPLA1 (R214W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216035	NM_001374623.1(PNPLA1):c.724G>A (p.Asp242Asn)	PNPLA1 (D147N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 3216032	NM_001374623.1(PNPLA1):c.1584C>G (p.Ser528Arg)	PNPLA1 (S433R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216030	NM_001374623.1(PNPLA1):c.1492A>G (p.Asn498Asp)	PNPLA1 (N498D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3216028	NM_001374623.1(PNPLA1):c.1427C>T (p.Pro476Leu)	PNPLA1 (P390L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216027	NM_001374623.1(PNPLA1):c.1220C>T (p.Pro407Leu)	PNPLA1 (P312L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3035752	NM_001374623.1(PNPLA1):c.474T>C (p.Cys158=)	PNPLA1	Single nucleotide variant (synonymous variant)	PNPLA1-related disorder	GLikely benign
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 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 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 2782330	NM_001374623.1(PNPLA1):c.439-2A>G	PNPLA1	Single nucleotide variant (splice acceptor variant)	not provided	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 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
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 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 2598045	NM_001374623.1(PNPLA1):c.935A>G (p.Lys312Arg)	PNPLA1 (K312R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2564135	NM_001374623.1(PNPLA1):c.1301C>A (p.Ala434Glu)	PNPLA1 (A348E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555669	NM_001374623.1(PNPLA1):c.998A>G (p.Gln333Arg)	PNPLA1 (Q238R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469567	NM_001374623.1(PNPLA1):c.821G>A (p.Arg274Gln)	PNPLA1 (R274Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469229	NM_001374623.1(PNPLA1):c.1444G>A (p.Glu482Lys)	PNPLA1 (E396K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2445879	NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)	PNPLA1 (R151* +2 more)	Single nucleotide variant (nonsense)	Lamellar ichthyosis	GLikely pathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
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 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 2303357	NM_001374623.1(PNPLA1):c.1298G>A (p.Gly433Glu)	PNPLA1 (G338E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289132	NM_001374623.1(PNPLA1):c.1057C>T (p.Pro353Ser)	PNPLA1 (P258S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2241383	NM_001374623.1(PNPLA1):c.1498G>A (p.Val500Met)	PNPLA1 (V500M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2213303	NM_001374623.1(PNPLA1):c.904G>A (p.Ala302Thr)	PNPLA1 (A216T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2136383	NM_001374623.1(PNPLA1):c.275del (p.Pro92fs)	PNPLA1 (P92fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1935414	NM_001374623.1(PNPLA1):c.726_734dup (p.Tyr245_Arg246insTyrTyrTyr)	PNPLA1	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1705695	NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)	PNPLA1 (S402P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GUncertain significance
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 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 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 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 1627674	NM_001374623.1(PNPLA1):c.1084A>G (p.Thr362Ala)	PNPLA1 (T267A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1371333	NM_001374623.1(PNPLA1):c.850G>A (p.Ala284Thr)	PNPLA1 (A189T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332876	NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)	PNPLA1 (R166C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1323478	NM_001374623.1(PNPLA1):c.892C>T (p.Arg298Ter)	PNPLA1 (R203* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1312422	NM_001374623.1(PNPLA1):c.776-1_790dup	PNPLA1	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 1290622	NM_001374623.1(PNPLA1):c.439-252G>A	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287688	NM_001374623.1(PNPLA1):c.776-35G>A	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10 +1 more	GBenign
Select item 1284042	NM_001374623.1(PNPLA1):c.776-134G>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 1278948	NM_001374623.1(PNPLA1):c.505-82A>G	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 1272595	NM_001374623.1(PNPLA1):c.1470-140A>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268178	NM_001374623.1(PNPLA1):c.205+210G>A	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 1257631	NM_001374623.1(PNPLA1):c.504+105A>G	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 1249023	NM_001374623.1(PNPLA1):c.714+307G>A	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 1243438	NM_001374623.1(PNPLA1):c.715-201G>A	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 1235822	NM_001374623.1(PNPLA1):c.505-297T>G	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234849	NM_001374623.1(PNPLA1):c.714+182C>T	PNPLA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234762	NM_001374623.1(PNPLA1):c.438+34A>G	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 1182831	NM_001374623.1(PNPLA1):c.1384+303del	PNPLA1	Deletion (intron variant)	not provided	GBenign
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 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
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 908038	NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=)	PNPLA1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 10 +1 more	GConflicting classifications of pathogenicity
Select item 907104	NM_001374623.1(PNPLA1):c.1595+842C>T	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 907103	NM_001374623.1(PNPLA1):c.1595+777A>T	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 906101	NM_001374623.1(PNPLA1):c.1595+550A>G	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 906100	NM_001374623.1(PNPLA1):c.1595+384G>C	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GBenign
Select item 906029	NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly)	PNPLA1 (E196G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 905590	NM_001374623.1(PNPLA1):c.1595+221G>C	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 10	GLikely benign
Select item 905589	NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=)	PNPLA1	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 905588	NM_001374623.1(PNPLA1):c.1469+10C>G	PNPLA1	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 905519	NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=)	PNPLA1	Single nucleotide variant (synonymous 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 904801	NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile)	PNPLA1 (V394I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 904800	NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser)	PNPLA1 (P447S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	GUncertain significance
Select item 904799	NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg)	PNPLA1 (L348R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 10	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 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 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 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 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 809928	NM_001374623.1(PNPLA1):c.1577A>G (p.Lys526Arg)	PNPLA1 (K440R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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