FOCAD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	SLC24A2, SLC25A51 +691 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148220	GRCh38/hg38 9p21.3(chr9:20687770-21309178)x1	FOCAD, HACD4 +20 more	Copy number loss	See cases	GUncertain significance
Select item 1269550	NM_001375567.1(FOCAD):c.-32-44G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231527	NM_001375567.1(FOCAD):c.-32-9T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2708154	NM_001375567.1(FOCAD):c.20A>T (p.Lys7Ile)	FOCAD (K7I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636103	NM_001375567.1(FOCAD):c.49C>A (p.Gln17Lys)	FOCAD (Q17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2890238	NM_001375567.1(FOCAD):c.51A>G (p.Gln17=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2485400	NM_001375567.1(FOCAD):c.59C>G (p.Ala20Gly)	FOCAD (A20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096170	NM_001375567.1(FOCAD):c.122C>A (p.Ser41Tyr)	FOCAD (S41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224232	NM_001375567.1(FOCAD):c.133-61GT[7]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 2714074	NM_001375567.1(FOCAD):c.133-12G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3043222	NM_001375567.1(FOCAD):c.133-10T>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3044566	NM_001375567.1(FOCAD):c.142T>C (p.Leu48=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 2485399	NM_001375567.1(FOCAD):c.176A>G (p.Asn59Ser)	FOCAD (N59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327019	NM_001375567.1(FOCAD):c.194C>T (p.Ala65Val)	FOCAD (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2703863	NM_001375567.1(FOCAD):c.220G>A (p.Val74Ile)	FOCAD (V74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279456	NM_001375567.1(FOCAD):c.253C>T (p.Leu85Phe)	FOCAD (L85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2696549	NM_001375567.1(FOCAD):c.259G>A (p.Gly87Arg)	FOCAD (G87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708128	NM_001375567.1(FOCAD):c.278dup (p.Ser94fs)	FOCAD (S94fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1247067	NM_001375567.1(FOCAD):c.287+66A>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262401	NM_001375567.1(FOCAD):c.288-158G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3279453	NM_001375567.1(FOCAD):c.288A>G (p.Arg96=)	FOCAD	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3279455	NM_001375567.1(FOCAD):c.304A>G (p.Ile102Val)	FOCAD (I102V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411295	NM_001375567.1(FOCAD):c.317T>C (p.Met106Thr)	FOCAD (M106T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058420	NM_001375567.1(FOCAD):c.319C>T (p.His107Tyr)	FOCAD (H107Y)	Single nucleotide variant (missense variant +1 more)	FOCAD-related disorder	GLikely benign
Select item 2493008	NM_001375567.1(FOCAD):c.321C>G (p.His107Gln)	FOCAD (H107Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2629110	NM_001375567.1(FOCAD):c.325C>A (p.Leu109Ile)	FOCAD (L109I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718436	NM_001375567.1(FOCAD):c.370A>G (p.Ile124Val)	FOCAD (I124V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2209723	NM_001375567.1(FOCAD):c.374A>G (p.Gln125Arg)	FOCAD (Q125R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2889851	NM_001375567.1(FOCAD):c.376A>G (p.Ser126Gly)	FOCAD (S126G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2808599	NM_001375567.1(FOCAD):c.392+25_392+26dup	FOCAD	Duplication (intron variant)	not provided	GBenign
Select item 1179302	NM_001375567.1(FOCAD):c.392+26dup	FOCAD	Duplication (intron variant)	not provided	GBenign
Select item 2801951	NM_001375567.1(FOCAD):c.392+26del	FOCAD	Deletion (intron variant)	not provided	GBenign
Select item 2697038	NM_001375567.1(FOCAD):c.392+25_392+26del	FOCAD	Deletion (intron variant)	not provided	GBenign
Select item 1242270	NM_001375567.1(FOCAD):c.392+94A>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2698336	NM_001375567.1(FOCAD):c.393-14_393-13insG	FOCAD	Insertion (intron variant)	not provided	GLikely benign
Select item 2704942	NM_001375567.1(FOCAD):c.393-13C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696551	NM_001375567.1(FOCAD):c.393-11G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712693	NM_001375567.1(FOCAD):c.401C>T (p.Pro134Leu)	FOCAD (P134L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385575	NM_001375567.1(FOCAD):c.487C>A (p.Pro163Thr)	FOCAD (P128T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591260	NM_001375567.1(FOCAD):c.491A>G (p.Glu164Gly)	FOCAD (E164G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031985	NM_001375567.1(FOCAD):c.494+5del	FOCAD	Deletion (intron variant)	FOCAD-related disorder	GLikely benign
Select item 3031238	NM_001375567.1(FOCAD):c.494+7T>C	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder	GLikely benign
Select item 1288052	NM_001375567.1(FOCAD):c.494+116T>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402871	NM_001375567.1(FOCAD):c.497T>C (p.Leu166Ser)	FOCAD (L166S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2708466	NM_001375567.1(FOCAD):c.510C>T (p.Cys170=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621889	NM_001375567.1(FOCAD):c.523G>T (p.Ala175Ser)	FOCAD (A140S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621890	NM_001375567.1(FOCAD):c.526C>A (p.Pro176Thr)	FOCAD (P176T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2786889	NM_001375567.1(FOCAD):c.543G>C (p.Leu181=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2339044	NM_001375567.1(FOCAD):c.545A>G (p.Tyr182Cys)	FOCAD (Y147C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048936	NM_001375567.1(FOCAD):c.555A>G (p.Pro185=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 1701020	NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)	FOCAD (R195* +1 more)	Single nucleotide variant (nonsense)	Liver disease, severe congenital	GPathogenic
Select item 2703658	NM_001375567.1(FOCAD):c.644C>T (p.Ser215Leu)	FOCAD (S180L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287607	NM_001375567.1(FOCAD):c.699+25A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274189	NM_001375567.1(FOCAD):c.699+133A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281443	NM_001375567.1(FOCAD):c.700-209C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276531	NM_001375567.1(FOCAD):c.700-44G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715478	NM_001375567.1(FOCAD):c.700G>A (p.Val234Ile)	FOCAD (V199I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2525988	NM_001375567.1(FOCAD):c.719C>T (p.Thr240Ile)	FOCAD (T240I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096194	NM_001375567.1(FOCAD):c.728C>T (p.Ala243Val)	FOCAD (A243V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327170	NM_001375567.1(FOCAD):c.730A>G (p.Met244Val)	FOCAD (M244V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353388	NM_001375567.1(FOCAD):c.766C>T (p.Arg256Cys)	FOCAD (R256C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261763	NM_001375567.1(FOCAD):c.773C>G (p.Pro258Arg)	FOCAD (P223R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2704258	NM_001375567.1(FOCAD):c.782G>A (p.Trp261Ter)	FOCAD (W261* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3349752	NM_001375567.1(FOCAD):c.805A>G (p.Ser269Gly)	FOCAD (S234G +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3096195	NM_001375567.1(FOCAD):c.805A>T (p.Ser269Cys)	FOCAD (S234C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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