"PreventionGenetics, part of Exact Sciences"[submitter] AND "FBLN5"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 390207	NM_006329.4(FBLN5):c.1086C>T (p.Pro362=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +2 more	GLikely benign
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 623854	NM_006329.4(FBLN5):c.894G>A (p.Thr298=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +1 more	GLikely benign
Select item 2714624	NM_006329.4(FBLN5):c.870C>T (p.Asn290=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +1 more	GLikely benign
Select item 1991120	NM_006329.4(FBLN5):c.798C>T (p.Pro266=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 511716	NM_006329.4(FBLN5):c.747C>T (p.Asp249=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +1 more	GLikely benign
Select item 1984569	NM_006329.4(FBLN5):c.726C>T (p.Gly242=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +1 more	GLikely benign
Select item 1649985	NM_006329.4(FBLN5):c.675C>T (p.Tyr225=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2962505	NM_006329.4(FBLN5):c.663C>T (p.Cys221=)	FBLN5	Single nucleotide variant (synonymous variant)	FBLN5-related condition +1 more	GLikely benign
Select item 287193	NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	FBLN5	Single nucleotide variant (synonymous variant)	Macular degeneration, age-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 226639	NM_006329.4(FBLN5):c.620-8T>C	FBLN5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1593450	NM_006329.4(FBLN5):c.484C>T (p.Leu162=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 218360	NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	FBLN5 (V126M +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +3 more	GConflicting classifications of pathogenicity
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 2152214	NM_006329.4(FBLN5):c.257C>G (p.Thr86Ser)	FBLN5 (T86S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629089	NM_006329.4(FBLN5):c.116A>G (p.Gln39Arg)	FBLN5 (Q39R +1 more)	Single nucleotide variant (missense variant +1 more)	FBLN5-related condition	GUncertain significance