"GeneDx"[submitter] AND "FOCAD"[gene] - ClinVar

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Search results

Items: 83

	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 1224232	NM_001375567.1(FOCAD):c.133-61GT[7]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
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 1179302	NM_001375567.1(FOCAD):c.392+26dup	FOCAD	Duplication (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 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 +1 more	GBenign
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 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 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 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
Select item 1269952	NM_001375567.1(FOCAD):c.1198-119T>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288787	NM_001375567.1(FOCAD):c.1455+234C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288830	NM_001375567.1(FOCAD):c.1455+262A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223883	NM_001375567.1(FOCAD):c.1456-295A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220962	NM_001375567.1(FOCAD):c.1663-58A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280884	NM_001375567.1(FOCAD):c.1793+148G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294440	NM_001375567.1(FOCAD):c.1793+217C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243005	NM_001375567.1(FOCAD):c.1920+200C>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287187	NM_001375567.1(FOCAD):c.1921-253G>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294441	NM_001375567.1(FOCAD):c.1921-222G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277399	NM_001375567.1(FOCAD):c.1921-71G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237068	NM_001375567.1(FOCAD):c.1921-62A>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267130	NM_001375567.1(FOCAD):c.2503+62T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279713	NM_001375567.1(FOCAD):c.2600A>G (p.Gln867Arg)	FOCAD (Q832R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402872	NM_001375567.1(FOCAD):c.2625+11G>A	FOCAD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294508	NM_001375567.1(FOCAD):c.2718+96dup	FOCAD	Duplication (intron variant)	not provided	GBenign
Select item 1272563	NM_001375567.1(FOCAD):c.2807+192AC[23]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 1238123	NM_001375567.1(FOCAD):c.2807+192AC[24]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 1294445	NM_001375567.1(FOCAD):c.2807+192AC[20]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 1236739	NM_001375567.1(FOCAD):c.2807+192AC[21]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 1234993	NM_001375567.1(FOCAD):c.2807+192AC[19]	FOCAD	Microsatellite (intron variant)	not provided	GBenign
Select item 1268738	NM_001375567.1(FOCAD):c.2808-227T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183747	NM_001375567.1(FOCAD):c.2808-64A>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287315	NM_001375567.1(FOCAD):c.2852+140C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247795	NM_001375567.1(FOCAD):c.2853-141C>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275171	NM_001375567.1(FOCAD):c.2853-80C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258724	NM_001375567.1(FOCAD):c.2853-41A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240747	NM_001375567.1(FOCAD):c.2962-161del	FOCAD	Deletion (intron variant)	not provided	GBenign
Select item 1269789	NM_001375567.1(FOCAD):c.2962-68C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238344	NM_001375567.1(FOCAD):c.3317+184G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282677	NM_001375567.1(FOCAD):c.3318-145G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264837	NM_001375567.1(FOCAD):c.3318-114dup	FOCAD	Duplication (intron variant)	not provided	GBenign
Select item 769750	NM_001375567.1(FOCAD):c.3335A>C (p.Glu1112Ala)	FOCAD (E1112A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1280524	NM_001375567.1(FOCAD):c.3408-68G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788792	NM_001375567.1(FOCAD):c.3546G>A (p.Thr1182=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266336	NM_001375567.1(FOCAD):c.3675+133T>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258174	NM_001375567.1(FOCAD):c.3675+202G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279439	NM_001375567.1(FOCAD):c.3676-144_3676-143dup	FOCAD	Duplication (intron variant)	not provided	GBenign
Select item 1287027	NM_001375567.1(FOCAD):c.3717A>G (p.Gly1239=)	FOCAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1256738	NM_001375567.1(FOCAD):c.3799-55A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233213	NM_001375567.1(FOCAD):c.3876+232C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262381	NM_001375567.1(FOCAD):c.4117A>G (p.Thr1373Ala)	FOCAD (T1338A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1242915	NM_001375567.1(FOCAD):c.4132+169A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283168	NM_001375567.1(FOCAD):c.4132+196G>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252968	NM_001375567.1(FOCAD):c.4133-121C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279455	NM_001375567.1(FOCAD):c.4262-32A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235694	NM_001375567.1(FOCAD):c.4262-26A>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222738	NM_001375567.1(FOCAD):c.4639-28T>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227798	NM_001375567.1(FOCAD):c.4728+58T>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267508	NM_001375567.1(FOCAD):c.4728+70G>C	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402873	NM_001375567.1(FOCAD):c.5002A>G (p.Lys1668Glu)	FOCAD (K1668E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1262340	NM_001375567.1(FOCAD):c.5005-23C>T	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253362	NM_001375567.1(FOCAD):c.5332+134T>G	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265225	NM_001375567.1(FOCAD):c.5333-227G>A	FOCAD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227998	NM_001375567.1(FOCAD):c.5333-181_5333-180insCA	FOCAD	Insertion (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 83