FOCAD[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	FOCAD-related disorder +1 more	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)	FOCAD-related disorder +1 more	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 specified +2 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)	FOCAD-related disorder +1 more	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 +1 more	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 +1 more	GConflicting classifications of pathogenicity
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 3096195	NM_001375567.1(FOCAD):c.805A>T (p.Ser269Cys)	FOCAD (S234C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096196	NM_001375567.1(FOCAD):c.831A>T (p.Glu277Asp)	FOCAD (E242D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894249	NM_001375567.1(FOCAD):c.904G>A (p.Glu302Lys)	FOCAD (E267K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096197	NM_001375567.1(FOCAD):c.906+1G>A	FOCAD	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2804322	NM_001375567.1(FOCAD):c.906+20A>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249639	NM_001375567.1(FOCAD):c.907-191C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294446	NM_001375567.1(FOCAD):c.907-166C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287344	NM_001375567.1(FOCAD):c.907-154T>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281513	NM_001375567.1(FOCAD):c.907-49A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2975893	NM_001375567.1(FOCAD):c.907-19T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2700138	NM_001375567.1(FOCAD):c.907-16C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2399378	NM_001375567.1(FOCAD):c.932T>C (p.Ile311Thr)	FOCAD (I276T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2700287	NM_001375567.1(FOCAD):c.935G>A (p.Gly312Glu)	FOCAD (G312E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030968	NM_001375567.1(FOCAD):c.948A>G (p.Leu316=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3279451	NM_001375567.1(FOCAD):c.982A>T (p.Ile328Phe)	FOCAD (I293F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239568	NM_001375567.1(FOCAD):c.994+237A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253003	NM_001375567.1(FOCAD):c.994+239G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249822	NM_001375567.1(FOCAD):c.995-227_995-226del	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 2579058	NM_001375567.1(FOCAD):c.995-8A>G	FOCAD	Single nucleotide variant (intron variant)	FOCAD-related disorder +1 more	GBenign
Select item 3055131	NM_001375567.1(FOCAD):c.1003C>A (p.Leu335Ile)	FOCAD (L300I +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GUncertain significance
Select item 3279460	NM_001375567.1(FOCAD):c.1042T>C (p.Ser348Pro)	FOCAD (S313P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034276	NM_001375567.1(FOCAD):c.1051C>T (p.Leu351=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder	GLikely benign
Select item 3013599	NM_001375567.1(FOCAD):c.1077A>G (p.Leu359=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 787068	NM_001375567.1(FOCAD):c.1096G>A (p.Asp366Asn)	FOCAD (D331N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2711527	NM_001375567.1(FOCAD):c.1115AAG[1] (p.Glu373del)	FOCAD (E338del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2556490	NM_001375567.1(FOCAD):c.1124C>T (p.Pro375Leu)	FOCAD (P375L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888256	NM_001375567.1(FOCAD):c.1128T>C (p.Ser376=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036559	NM_001375567.1(FOCAD):c.1137G>T (p.Gln379His)	FOCAD (Q344H +1 more)	Single nucleotide variant (missense variant)	FOCAD-related disorder	GLikely benign
Select item 2303681	NM_001375567.1(FOCAD):c.1171G>A (p.Glu391Lys)	FOCAD (E356K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3279457	NM_001375567.1(FOCAD):c.1182A>C (p.Arg394Ser)	FOCAD (R394S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279448	NM_001375567.1(FOCAD):c.1187A>C (p.Asp396Ala)	FOCAD (D361A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2853535	NM_001375567.1(FOCAD):c.1191C>T (p.His397=)	FOCAD	Single nucleotide variant (synonymous variant)	FOCAD-related disorder +1 more	GBenign
Select item 2709507	NM_001375567.1(FOCAD):c.1193A>G (p.Gln398Arg)	FOCAD (Q363R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698351	NM_001375567.1(FOCAD):c.1197+14C>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275639	NM_001375567.1(FOCAD):c.1197+51C>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221181	NM_001375567.1(FOCAD):c.1197+168del	FOCAD	Deletion (intron variant)	not provided	GBenign
Select item 1289896	NM_001375567.1(FOCAD):c.1197+172T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283139	NM_001375567.1(FOCAD):c.1198-191A>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign

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