FBLN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148551	GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4	FBLN2, HDAC11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 2522366	NM_001004019.2(FBLN2):c.25G>A (p.Gly9Arg)	FBLN2 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277921	NM_001004019.2(FBLN2):c.29C>T (p.Ala10Val)	FBLN2 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351532	NM_001004019.2(FBLN2):c.70G>A (p.Val24Met)	FBLN2 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093347	NM_001004019.2(FBLN2):c.76G>A (p.Ala26Thr)	FBLN2 (A26T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093311	NM_001004019.2(FBLN2):c.101C>T (p.Thr34Met)	FBLN2 (T34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791022	NM_001004019.2(FBLN2):c.171G>A (p.Thr57=)	FBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2269012	NM_001004019.2(FBLN2):c.238C>G (p.Arg80Gly)	FBLN2 (R80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513900	NM_001004019.2(FBLN2):c.245G>A (p.Arg82His)	FBLN2 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235127	NM_001004019.2(FBLN2):c.410T>G (p.Val137Gly)	FBLN2 (V137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477510	NM_001004019.2(FBLN2):c.424G>A (p.Ala142Thr)	FBLN2 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277932	NM_001004019.2(FBLN2):c.428G>C (p.Gly143Ala)	FBLN2 (G143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457855	NM_001004019.2(FBLN2):c.442G>A (p.Ala148Thr)	FBLN2 (A148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093341	NM_001004019.2(FBLN2):c.452C>G (p.Thr151Ser)	FBLN2 (T151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093342	NM_001004019.2(FBLN2):c.475G>A (p.Ala159Thr)	FBLN2 (A159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604356	NM_001004019.2(FBLN2):c.515A>G (p.Tyr172Cys)	FBLN2 (Y172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398608	NM_001004019.2(FBLN2):c.526G>C (p.Gly176Arg)	FBLN2 (G176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535728	NM_001004019.2(FBLN2):c.532C>T (p.His178Tyr)	FBLN2 (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382690	NM_001004019.2(FBLN2):c.580G>A (p.Glu194Lys)	FBLN2 (E194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093345	NM_001004019.2(FBLN2):c.640G>C (p.Gly214Arg)	FBLN2 (G214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476225	NM_001004019.2(FBLN2):c.653C>T (p.Ala218Val)	FBLN2 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277923	NM_001004019.2(FBLN2):c.695T>C (p.Leu232Pro)	FBLN2 (L232P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356640	NM_001004019.2(FBLN2):c.745G>A (p.Ala249Thr)	FBLN2 (A249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093346	NM_001004019.2(FBLN2):c.763A>C (p.Thr255Pro)	FBLN2 (T255P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277931	NM_001004019.2(FBLN2):c.787C>T (p.Pro263Ser)	FBLN2 (P263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093348	NM_001004019.2(FBLN2):c.818T>C (p.Val273Ala)	FBLN2 (V273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093349	NM_001004019.2(FBLN2):c.907G>A (p.Gly303Arg)	FBLN2 (G303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784466	NM_001004019.2(FBLN2):c.931G>A (p.Ala311Thr)	FBLN2 (A311T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2312978	NM_001004019.2(FBLN2):c.980G>C (p.Gly327Ala)	FBLN2 (G327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285148	NM_001004019.2(FBLN2):c.980G>A (p.Gly327Glu)	FBLN2 (G327E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277925	NM_001004019.2(FBLN2):c.1031C>T (p.Ala344Val)	FBLN2 (A344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093312	NM_001004019.2(FBLN2):c.1058C>T (p.Pro353Leu)	FBLN2 (P353L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093313	NM_001004019.2(FBLN2):c.1074T>A (p.His358Gln)	FBLN2 (H358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473061	NM_001004019.2(FBLN2):c.1078C>T (p.Pro360Ser)	FBLN2 (P360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093314	NM_001004019.2(FBLN2):c.1079C>T (p.Pro360Leu)	FBLN2 (P360L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541580	NM_001004019.2(FBLN2):c.1102G>C (p.Val368Leu)	FBLN2 (V368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493495	NM_001004019.2(FBLN2):c.1208G>A (p.Arg403Gln)	FBLN2 (R403Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277926	NM_001004019.2(FBLN2):c.1249G>A (p.Val417Met)	FBLN2 (V417M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093315	NM_001004019.2(FBLN2):c.1364A>T (p.Asp455Val)	FBLN2 (D455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277922	NM_001004019.2(FBLN2):c.1489A>G (p.Lys497Glu)	FBLN2 (K497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277920	NM_001004019.2(FBLN2):c.1549C>G (p.Gln517Glu)	FBLN2, LOC121009643 (Q517E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277929	NM_001004019.2(FBLN2):c.1552T>C (p.Cys518Arg)	FBLN2, LOC121009643 (C518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284065	NM_001004019.2(FBLN2):c.1609T>A (p.Ser537Thr)	FBLN2, LOC121009643 (S537T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093316	NM_001004019.2(FBLN2):c.1616C>T (p.Pro539Leu)	FBLN2, LOC121009643 (P539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277924	NM_001004019.2(FBLN2):c.1631C>T (p.Pro544Leu)	FBLN2 (P544L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093317	NM_001004019.2(FBLN2):c.1697G>A (p.Arg566Gln)	FBLN2 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543214	NM_001004019.2(FBLN2):c.1709C>T (p.Pro570Leu)	FBLN2 (P570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365566	NM_001004019.2(FBLN2):c.1748C>T (p.Ala583Val)	FBLN2 (A583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615422	NM_001004019.2(FBLN2):c.1783G>A (p.Glu595Lys)	FBLN2 (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519036	NM_001004019.2(FBLN2):c.1802C>T (p.Pro601Leu)	FBLN2 (P601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228788	NM_001004019.2(FBLN2):c.1955A>G (p.Gln652Arg)	FBLN2 (Q652R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472747	NM_001004019.2(FBLN2):c.2030T>A (p.Leu677Gln)	FBLN2 (L677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402359	NM_001004019.2(FBLN2):c.2033C>T (p.Pro678Leu)	FBLN2 (P678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269903	NM_001004019.2(FBLN2):c.2074G>A (p.Val692Met)	FBLN2 (V692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653575	NM_001004019.2(FBLN2):c.2109C>T (p.Ser703=)	FBLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775846	NM_001004019.2(FBLN2):c.2121C>T (p.Gly707=)	FBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3093319	NM_001004019.2(FBLN2):c.2126C>T (p.Ala709Val)	FBLN2 (A709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093320	NM_001004019.2(FBLN2):c.2128A>G (p.Ile710Val)	FBLN2 (I710V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244032	NM_001004019.2(FBLN2):c.2135C>T (p.Ala712Val)	FBLN2 (A712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293375	NM_001004019.2(FBLN2):c.2198G>A (p.Arg733Gln)	FBLN2 (R733Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480220	NM_001004019.2(FBLN2):c.2321T>A (p.Leu774Gln)	FBLN2 (L727Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093321	NM_001004019.2(FBLN2):c.2335C>T (p.Arg779Trp)	FBLN2 (R779W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478162	NM_001004019.2(FBLN2):c.2336G>A (p.Arg779Gln)	FBLN2 (R732Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277930	NM_001004019.2(FBLN2):c.2371C>T (p.His791Tyr)	FBLN2 (H744Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270314	NM_001004019.2(FBLN2):c.2386C>G (p.Leu796Val)	FBLN2 (L796V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093323	NM_001004019.2(FBLN2):c.2402G>A (p.Gly801Asp)	FBLN2 (G754D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277928	NM_001004019.2(FBLN2):c.2405A>G (p.Tyr802Cys)	FBLN2 (Y802C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265534	NM_001004019.2(FBLN2):c.2447C>T (p.Ala816Val)	FBLN2 (A816V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464890	NM_001004019.2(FBLN2):c.2471C>T (p.Pro824Leu)	FBLN2 (P824L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334565	NM_001004019.2(FBLN2):c.2533G>A (p.Asp845Asn)	FBLN2 (D845N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559074	NM_001004019.2(FBLN2):c.2588C>T (p.Ser863Leu)	FBLN2 (S816L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314865	NM_001004019.2(FBLN2):c.2605C>T (p.Arg869Trp)	FBLN2 (R822W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402271	NM_001004019.2(FBLN2):c.2606G>A (p.Arg869Gln)	FBLN2 (R822Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093325	NM_001004019.2(FBLN2):c.2645C>T (p.Thr882Ile)	FBLN2 (T835I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281291	NM_001004019.2(FBLN2):c.2645C>A (p.Thr882Lys)	FBLN2 (T835K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342036	NM_001004019.2(FBLN2):c.2646A>G (p.Thr882=)	FBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787781	NM_001004019.2(FBLN2):c.2658C>A (p.Asn886Lys)	FBLN2 (N839K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3093326	NM_001004019.2(FBLN2):c.2660C>G (p.Pro887Arg)	FBLN2 (P887R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093327	NM_001004019.2(FBLN2):c.2666T>C (p.Ile889Thr)	FBLN2 (I889T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206939	NM_001004019.2(FBLN2):c.2672C>T (p.Ala891Val)	FBLN2 (A844V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093328	NM_001004019.2(FBLN2):c.2698G>T (p.Gly900Trp)	FBLN2 (G853W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342031	NM_001004019.2(FBLN2):c.2701A>G (p.Thr901Ala)	FBLN2 (T854A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3093329	NM_001004019.2(FBLN2):c.2716G>A (p.Val906Met)	FBLN2 (V906M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305029	NM_001004019.2(FBLN2):c.2813A>T (p.Gln938Leu)	FBLN2 (Q891L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342035	NM_001004019.2(FBLN2):c.2826T>C (p.Phe942=)	FBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251984	NM_001004019.2(FBLN2):c.2830C>T (p.Arg944Trp)	FBLN2 (R897W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476372	NM_001004019.2(FBLN2):c.2839A>G (p.Ile947Val)	FBLN2 (I900V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093330	NM_001004019.2(FBLN2):c.2873G>A (p.Arg958His)	FBLN2 (R911H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394838	NM_001004019.2(FBLN2):c.2888C>T (p.Thr963Met)	FBLN2 (T916M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456583	NM_001004019.2(FBLN2):c.2915G>A (p.Arg972His)	FBLN2 (R925H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093332	NM_001004019.2(FBLN2):c.2954G>A (p.Gly985Asp)	FBLN2 (G938D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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