ClinVar for MedGen (Select 373276) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342917	NM_006329.4(FBLN5):c.992G>A (p.Arg331His)	FBLN5 (R331H +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +1 more	GUncertain significance
Select item 1172837	NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)	FBLN5 (N123T +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +3 more	GUncertain significance
Select item 888518	NM_006329.4(FBLN5):c.124+8C>A	FBLN5	Single nucleotide variant (intron variant)	Cutis laxa +1 more	GUncertain significance
Select item 888450	NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)	FBLN5 (L301M +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +2 more	GUncertain significance
Select item 888397	NM_006329.4(FBLN5):c.*419G>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 887258	NM_006329.4(FBLN5):c.273G>A (p.Pro91=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +3 more	GConflicting classifications of pathogenicity
Select item 887257	NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)	FBLN5 (I112M +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 887134	NM_006329.4(FBLN5):c.*426C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 886256	NM_006329.4(FBLN5):c.573A>G (p.Thr191=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 886192	NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)	FBLN5 (V355L +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 885290	NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	FBLN5 (R414Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 885289	NM_006329.4(FBLN5):c.*77T>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 885288	NM_006329.4(FBLN5):c.*121C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 884297	NM_006329.4(FBLN5):c.-77C>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 884224	NM_006329.4(FBLN5):c.726C>G (p.Gly242=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +1 more	GUncertain significance
Select item 689758	NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	FBLN5 (S401fs +5 more)	Deletion (frameshift variant)	Cutis laxa, autosomal recessive, type 1A +2 more	GPathogenic
Select item 417872	NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	FBLN5 (R395W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314893	NM_006329.4(FBLN5):c.-458G>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314891	NM_006329.4(FBLN5):c.-428G>C	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314890	NM_006329.4(FBLN5):c.-414C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +2 more	GBenign
Select item 314889	NM_006329.4(FBLN5):c.-413C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314888	NM_006329.4(FBLN5):c.-411A>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314887	NM_006329.4(FBLN5):c.-389C>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314886	NM_006329.4(FBLN5):c.-382C>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314885	NM_006329.4(FBLN5):c.-152C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314884	NM_006329.4(FBLN5):c.-139C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314883	NM_006329.4(FBLN5):c.-57G>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314880	NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)	FBLN5 (Y84C +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 314879	NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)	FBLN5 (E130K +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 314878	NM_006329.4(FBLN5):c.502+15G>C	FBLN5	Single nucleotide variant (intron variant)	Cutis laxa +3 more	GBenign
Select item 314877	NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)	FBLN5 (G226S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314876	NM_006329.4(FBLN5):c.714T>A (p.Leu238=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314875	NM_006329.4(FBLN5):c.862+12C>T	FBLN5	Single nucleotide variant (intron variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 314874	NM_006329.4(FBLN5):c.989+9C>T	FBLN5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 314873	NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314872	NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign
Select item 314871	NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	FBLN5 (R401Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 314870	NM_006329.4(FBLN5):c.*98G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314869	NM_006329.4(FBLN5):c.*326G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314868	NM_006329.4(FBLN5):c.*329T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314867	NM_006329.4(FBLN5):c.*363C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314866	NM_006329.4(FBLN5):c.*423T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314865	NM_006329.4(FBLN5):c.*458T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314864	NM_006329.4(FBLN5):c.*514A>G	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314863	NM_006329.4(FBLN5):c.*623A>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign
Select item 314862	NM_006329.4(FBLN5):c.*647C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314861	NM_006329.4(FBLN5):c.*648G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 314860	NM_006329.4(FBLN5):c.*653G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314859	NM_006329.4(FBLN5):c.*775A>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 287193	NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226639	NM_006329.4(FBLN5):c.620-8T>C	FBLN5	Single nucleotide variant (intron variant)	Macular degeneration, age-related, 3 +4 more	GBenign/Likely benign
Select item 218360	NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	FBLN5 (V126M +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 218359	NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	FBLN5 (G90S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163456	NM_006329.4(FBLN5):c.863-13C>T	FBLN5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 163455	NM_006329.4(FBLN5):c.989+13G>A	FBLN5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 163450	NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +5 more	GBenign
Select item 21453	NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	FBLN5 (G202R +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 5483	NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)	FBLN5 (G412E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5482	NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)	FBLN5 (A363T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5481	NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	FBLN5 (R351W +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +6 more	GUncertain significance
Select item 5480	NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr)	FBLN5 (I169T +3 more)	Single nucleotide variant (missense variant)	Age-related macular degeneration +1 more	GConflicting classifications of pathogenicity
Select item 5479	NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser)	FBLN5 (P87S +3 more)	Single nucleotide variant (missense variant)	Age-related macular degeneration +1 more	GConflicting classifications of pathogenicity
Select item 5478	NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)	FBLN5 (R71Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5477	NM_006329.4(FBLN5):c.178G>C (p.Val60Leu)	FBLN5 (V60L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from MedGen

Items: 64