ClinVar for Gene (Select 10555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276258	NM_006412.4(AGPAT2):c.269G>T (p.Arg90Leu)	AGPAT2 (R90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276248	NM_006412.4(AGPAT2):c.253A>G (p.Arg85Gly)	AGPAT2 (R85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276244	NM_006412.4(AGPAT2):c.629T>C (p.Phe210Ser)	AGPAT2 (F210S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276237	NM_006412.4(AGPAT2):c.721G>C (p.Val241Leu)	AGPAT2 (V209L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256879	NM_006412.4(AGPAT2):c.530_537dup (p.Asp180fs)	AGPAT2 (D180fs)	Duplication (frameshift variant +1 more)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 3251476	NM_006412.4(AGPAT2):c.661+5C>T	AGPAT2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3234919	NM_006412.4(AGPAT2):c.254_258dup (p.Gln87fs)	AGPAT2 (Q87fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 3096401	NM_006412.4(AGPAT2):c.86A>G (p.Lys29Arg)	AGPAT2 (K29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096393	NM_006412.4(AGPAT2):c.740C>T (p.Thr247Ile)	AGPAT2 (T215I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096391	NM_006412.4(AGPAT2):c.480G>A (p.Met160Ile)	AGPAT2 (M160I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096376	NM_006412.4(AGPAT2):c.32T>G (p.Leu11Arg)	AGPAT2 (L11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096375	NM_006412.4(AGPAT2):c.283G>A (p.Val95Ile)	AGPAT2 (V95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3096364	NM_006412.4(AGPAT2):c.179T>G (p.Met60Arg)	AGPAT2 (M60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	DMAC1, DMRT1 +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 disorder	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	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +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	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +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	LOC124375251, LOC126860788 +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)	Congenital generalized lipodystrophy type 1 +1 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)	not provided +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)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +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)	Congenital generalized lipodystrophy type 1 +2 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	AGPAT2, C9orf163 +7 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	ABCA2, AGPAT2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +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

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