ClinVar for Gene (Select 10555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065518	NM_006412.4(AGPAT2):c.158del (p.Gly53fs)	AGPAT2 (G53fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3023209	NM_006412.4(AGPAT2):c.316+7C>T	AGPAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959137	NM_006412.4(AGPAT2):c.493-17C>T	AGPAT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958963	NM_006412.4(AGPAT2):c.168G>A (p.Thr56=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905230	NM_006412.4(AGPAT2):c.300C>T (p.Ser100=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780569	NM_006412.4(AGPAT2):c.45G>A (p.Leu15=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726442	NM_006412.4(AGPAT2):c.621C>T (p.Phe207=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2629060	NM_006412.4(AGPAT2):c.656_660del (p.Thr219fs)	AGPAT2 (T187fs +1 more)	Microsatellite (frameshift variant)	AGPAT2-related condition	GLikely pathogenic
Select item 2596844	NM_006412.4(AGPAT2):c.803C>T (p.Ala268Val)	AGPAT2 (A236V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554150	NM_006412.4(AGPAT2):c.344G>A (p.Cys115Tyr)	AGPAT2 (C115Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543192	NM_006412.4(AGPAT2):c.407G>A (p.Gly136Glu)	AGPAT2 (G136E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516356	NM_006412.4(AGPAT2):c.733G>A (p.Val245Met)	AGPAT2 (V213M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2506961	NM_006412.4(AGPAT2):c.316+1G>T	AGPAT2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 2504299	NM_006412.4(AGPAT2):c.563C>A (p.Ala188Asp)	AGPAT2 (A188D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502258	NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys)	AGPAT2 (R51C)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 2429219	NM_006412.4(AGPAT2):c.835T>C (p.Ter279Gln)	AGPAT2	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2239389	NM_006412.4(AGPAT2):c.617C>T (p.Ser206Phe)	AGPAT2 (S174F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 2195292	NM_006412.4(AGPAT2):c.729G>A (p.Ala243=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170449	NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)	AGPAT2 (K216L +1 more)	Inversion (missense variant)	AGPAT2-related condition +2 more	GUncertain significance
Select item 2168478	NM_006412.4(AGPAT2):c.361C>T (p.Arg121Trp)	AGPAT2 (R121W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148798	NM_006412.4(AGPAT2):c.21G>A (p.Leu7=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133714	NM_006412.4(AGPAT2):c.50T>G (p.Leu17Arg)	AGPAT2 (L17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131667	NM_006412.4(AGPAT2):c.384C>G (p.Pro128=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084937	NM_006412.4(AGPAT2):c.103G>A (p.Ala35Thr)	AGPAT2 (A35T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2078657	NM_006412.4(AGPAT2):c.119T>C (p.Val40Ala)	AGPAT2 (V40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057769	NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)	AGPAT2 (K184del +1 more)	Microsatellite (inframe_deletion)	Congenital generalized lipodystrophy type 1 +1 more	GUncertain significance
Select item 1950853	NM_006412.4(AGPAT2):c.678G>A (p.Gln226=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948184	NM_006412.4(AGPAT2):c.16T>C (p.Cys6Arg)	AGPAT2 (C6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903844	NM_006412.4(AGPAT2):c.317-17_317-12del	AGPAT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1900173	NM_006412.4(AGPAT2):c.241C>T (p.Arg81Trp)	AGPAT2 (R81W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899133	NM_006412.4(AGPAT2):c.68C>T (p.Ala23Val)	AGPAT2 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896275	NM_006412.4(AGPAT2):c.223G>A (p.Gly75Arg)	AGPAT2 (G75R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806161	NM_006412.4(AGPAT2):c.493-2A>G	AGPAT2	Single nucleotide variant (intron variant +1 more)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 1803905	NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)	AGPAT2 (P231R +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 1803896	NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)	AGPAT2 (A8T)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 1719976	NM_006412.4(AGPAT2):c.220T>C (p.Tyr74His)	AGPAT2 (Y74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696281	NM_006412.4(AGPAT2):c.761C>T (p.Thr254Ile)	AGPAT2 (T222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694019	NM_006412.4(AGPAT2):c.827C>T (p.Pro276Leu)	AGPAT2 (P244L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687558	NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)	AGPAT2 (L13*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ENTR1, EXD3 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1338051	NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)	AGPAT2 (R90P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337369	NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)	AGPAT2 (G64S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1334446	NM_006412.4(AGPAT2):c.313A>G (p.Met105Val)	AGPAT2 (M105V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy	GPathogenic
Select item 1304896	NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg)	AGPAT2 (G75R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +1 more	GUncertain significance
Select item 1289938	NM_006412.4(AGPAT2):c.182+99C>G	AGPAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285417	NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	AGPAT2 (E197* +1 more)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 1266186	NC_000009.12:g.136687531C>A	AGPAT2, LOC130003026	Single nucleotide variant	not provided	GBenign
Select item 1257569	NC_000009.12:g.136687542A>C	AGPAT2, LOC130003026	Single nucleotide variant	not provided	GBenign
Select item 1247041	NM_006412.4(AGPAT2):c.662-308G>A	AGPAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188862	NM_006412.4(AGPAT2):c.183-60G>C	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188861	NM_006412.4(AGPAT2):c.661+121T>C	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1072415	NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)	AGPAT2 (L124fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic
Select item 1062726	NC_000009.11:g.(?_139297240)_(139572028_?)dup	EGFL7, MIR126 +7 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	LCN10, LCN12 +49 more	Duplication	Intellectual disability, autosomal dominant 8 +2 more	GUncertain significance
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LCN6, LCN8 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980359	GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1	SNHG7, AJM1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 917425	NM_006412.4(AGPAT2):c.29C>G (p.Ala10Gly)	AGPAT2 (A10G)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance
Select item 917424	NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)	AGPAT2 (R77H)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +2 more	GConflicting classifications of pathogenicity
Select item 917423	NM_006412.4(AGPAT2):c.461C>A (p.Ala154Asp)	AGPAT2 (A154D)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 917421	NM_006412.4(AGPAT2):c.455T>C (p.Val152Ala)	AGPAT2 (V152A)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
Select item 915079	NM_006412.4(AGPAT2):c.54G>A (p.Val18=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915078	NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915052	NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915051	NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)	AGPAT2 (P263L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915050	NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915049	NM_006412.4(AGPAT2):c.*34C>G	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915048	NM_006412.4(AGPAT2):c.*48T>C	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 914995	NM_006412.4(AGPAT2):c.*572C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 914526	NM_006412.4(AGPAT2):c.*102C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 914525	NM_006412.4(AGPAT2):c.*211G>A	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913830	NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)	AGPAT2 (R121G)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913829	NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)	AGPAT2 (M133V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913828	NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)	AGPAT2 (F139V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913448	NM_006412.4(AGPAT2):c.493-7C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913447	NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)	AGPAT2 (K216M +1 more)	Single nucleotide variant (missense variant)	AGPAT2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 913412	NM_006412.4(AGPAT2):c.*232C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913411	NM_006412.4(AGPAT2):c.*236C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 913410	NM_006412.4(AGPAT2):c.*277C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913409	NM_006412.4(AGPAT2):c.*382C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913408	NM_006412.4(AGPAT2):c.*411C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913042	NM_006412.4(AGPAT2):c.*488C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913041	NM_006412.4(AGPAT2):c.*510C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 912371	NM_006412.4(AGPAT2):c.-19T>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 912370	NM_006412.4(AGPAT2):c.-18C>A	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 912322	NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)	AGPAT2 (R218Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	CLIC3, CYSRT1 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	TMEM250, PPP1R26 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 800897	NM_006412.4(AGPAT2):c.335del (p.Pro112fs)	AGPAT2 (P112fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 791628	NM_006412.4(AGPAT2):c.828G>A (p.Pro276=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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