"GeneDx"[submitter] AND "FBLN1"[gene] - ClinVar

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Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 1235073	NC_000022.11:g.45502712G>C	FBLN1	Single nucleotide variant	not provided	GBenign
Select item 1250203	NC_000022.11:g.45502794G>C	FBLN1	Single nucleotide variant	not provided	GBenign
Select item 1181351	NM_006486.3(FBLN1):c.80-101G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260958	NM_006486.3(FBLN1):c.80-21C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286401	NM_006486.3(FBLN1):c.185+8T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279638	NM_006486.3(FBLN1):c.185+25T>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182310	NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG	FBLN1	Insertion (intron variant)	not provided	GBenign
Select item 1257005	NM_006486.3(FBLN1):c.185+300A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260511	NM_006486.3(FBLN1):c.186-215T>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281446	NM_006486.3(FBLN1):c.186-64G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181690	NM_006486.3(FBLN1):c.321+73C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232253	NM_006486.3(FBLN1):c.321+309G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233551	NM_006486.3(FBLN1):c.321+325C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251705	NM_006486.3(FBLN1):c.322-307G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279385	NM_006486.3(FBLN1):c.322-293C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223892	NM_006486.3(FBLN1):c.322-102G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775777	NM_006486.3(FBLN1):c.484+5C>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274782	NM_006486.3(FBLN1):c.484+116dup	FBLN1	Duplication (intron variant)	not provided	GBenign
Select item 1273534	NM_006486.3(FBLN1):c.484+205C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238085	NM_006486.3(FBLN1):c.484+223T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228492	NM_006486.3(FBLN1):c.484+284T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274592	NM_006486.3(FBLN1):c.485-265G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247363	NM_006486.3(FBLN1):c.485-103G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231998	NM_006486.3(FBLN1):c.485-100T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238781	NM_006486.3(FBLN1):c.485-33A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264188	NM_006486.3(FBLN1):c.544+16C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233703	NM_006486.3(FBLN1):c.544+244G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236656	NM_006486.3(FBLN1):c.544+259A>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262871	NM_006486.3(FBLN1):c.545-283T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275452	NM_006486.3(FBLN1):c.545-281C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255069	NM_006486.3(FBLN1):c.545-197A>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230100	NM_006486.3(FBLN1):c.545-192C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237975	NM_006486.3(FBLN1):c.545-102G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232203	NM_006486.3(FBLN1):c.646+146C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259986	NM_006486.3(FBLN1):c.646+156T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223347	NM_006486.3(FBLN1):c.647-293C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263134	NM_006486.3(FBLN1):c.647-250G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179847	NM_006486.3(FBLN1):c.647-214A>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279147	NM_006486.3(FBLN1):c.647-64T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236913	NM_006486.3(FBLN1):c.647-44del	FBLN1	Deletion (intron variant)	not provided	GBenign
Select item 1243610	NM_006486.3(FBLN1):c.647-27C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232849	NM_006486.3(FBLN1):c.784+297dup	FBLN1	Duplication (intron variant)	not provided	GBenign
Select item 1261991	NM_006486.3(FBLN1):c.922+45C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290145	NM_006486.3(FBLN1):c.923-48G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232901	NM_006486.3(FBLN1):c.963C>T (p.Ile321=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1232689	NM_006486.3(FBLN1):c.1066+126C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288152	NM_006486.3(FBLN1):c.1066+132G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282132	NM_006486.3(FBLN1):c.1195+175A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249142	NM_006486.3(FBLN1):c.1322-239G>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268579	NM_006486.3(FBLN1):c.1441+119A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283481	NM_006486.3(FBLN1):c.1441+209dup	FBLN1	Duplication (intron variant)	not provided	GBenign
Select item 1282391	NM_006486.3(FBLN1):c.1441+208_1441+209del	FBLN1	Deletion (intron variant)	not provided	GBenign
Select item 1233253	NM_006486.3(FBLN1):c.1441+209del	FBLN1	Deletion (intron variant)	not provided	GBenign
Select item 1227655	NM_006486.3(FBLN1):c.1442-322C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294788	NM_006486.3(FBLN1):c.1442-224C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182972	NM_006486.3(FBLN1):c.1573+327C>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239018	NM_006486.3(FBLN1):c.1697+119G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251396	NM_006486.3(FBLN1):c.1697+7239G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269729	NM_006486.3(FBLN1):c.1697+7534G>A	FBLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1288814	NM_006486.3(FBLN1):c.1697+7783G>A	FBLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1250312	NM_006486.3(FBLN1):c.1698-11706G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280579	NM_006486.3(FBLN1):c.1698-11054C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271907	NM_006486.3(FBLN1):c.1698-9178C>T	FBLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270969	NM_006486.3(FBLN1):c.1841-306A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248629	NM_006486.3(FBLN1):c.1841-247G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236405	NM_006486.3(FBLN1):c.1973-319C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282806	NM_006486.3(FBLN1):c.1973-221T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246023	NM_006486.3(FBLN1):c.1973-78C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294716	NM_006486.3(FBLN1):c.1973-77A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512006	NM_006486.3(FBLN1):c.1973-12C>G	FBLN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1258505	NM_006486.3(FBLN1):c.2079C>T (p.Asn693=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 75