Related gene-specific medical variations for Gene (Select 1471) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067942	NM_000099.4(CST3):c.196_198del (p.Asp66del)	CST3, LOC130065546 (D66del)	Deletion (inframe_deletion)	Hereditary cerebral amyloid angiopathy, Icelandic type	GUncertain significance
Select item 2915642	NM_000099.4(CST3):c.168C>T (p.Ala56=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721474	NM_000099.4(CST3):c.18C>T (p.Arg6=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560521	NM_000099.4(CST3):c.184A>C (p.Lys62Gln)	CST3, LOC130065546 (K62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440591	NM_000099.4(CST3):c.212G>A (p.Arg71His)	CST3, LOC130065546 (R71H)	Single nucleotide variant (missense variant)	Hereditary cerebral amyloid angiopathy, Icelandic type	GUncertain significance
Select item 2300236	NM_000099.4(CST3):c.47C>G (p.Ala16Gly)	CST3, LOC130065547 (A16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273713	NM_000099.4(CST3):c.185A>G (p.Lys62Arg)	CST3, LOC130065546 (K62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213756	NM_000099.4(CST3):c.223G>A (p.Val75Met)	CST3, LOC130065546 (V75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1668603	NM_000099.4(CST3):c.243+11C>T	CST3, LOC130065546	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622251	NM_000099.4(CST3):c.12C>T (p.Pro4=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1598954	NM_000099.4(CST3):c.159G>A (p.Leu53=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1565371	NM_000099.4(CST3):c.138G>A (p.Glu46=)	CST3, LOC130065546	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1540973	NM_000099.4(CST3):c.243+17G>T	CST3, LOC130065546	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1337079	NM_000099.4(CST3):c.214G>T (p.Ala72Ser)	CST3, LOC130065546 (A72S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 756159	NM_000099.4(CST3):c.63G>A (p.Val21=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746510	NM_000099.4(CST3):c.33G>C (p.Leu11=)	CST3, LOC130065547	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719121	NM_000099.4(CST3):c.235C>A (p.Arg79Ser)	CST3, LOC130065546 (R79S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714896	NM_000099.4(CST3):c.88G>A (p.Gly30Ser)	CST3, LOC130065547 (G30S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402569	NM_000099.4(CST3):c.-72A>C	LOC130065547, CST3	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 5635	NM_000099.4(CST3):c.73G>A (p.Ala25Thr)	CST3, LOC130065547 (A25T)	Single nucleotide variant (missense variant)	Hereditary cerebral amyloid angiopathy, Icelandic type +3 more	GBenign

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Links from Gene

Items: 20