Related gene-specific medical variations for Gene (Select 355) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351821	NM_000043.6(FAS):c.12C>G (p.Ile4Met)	ACTA2, FAS (I4M)	Single nucleotide variant (missense variant +2 more)	FAS-related disorder	GUncertain significance
Select item 3244831	NC_000010.10:g.(?_90762766)_(90762971_?)del	FAS	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 3064842	NM_000043.6(FAS):c.670_676del (p.Leu224fs)	FAS (F196fs +3 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2836781	NM_000043.6(FAS):c.30+14_30+18dup	ACTA2, FAS	Duplication (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2741677	NM_000043.6(FAS):c.27T>C (p.Pro9=)	ACTA2, FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2575948	NM_000043.6(FAS):c.731A>T (p.Gln244Leu)	FAS (Q223L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 2441357	NM_000043.6(FAS):c.466G>A (p.Glu156Lys)	FAS (E156K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2441356	NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)	FAS (C82Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2195501	NM_000043.6(FAS):c.15G>C (p.Trp5Cys)	ACTA2, FAS (W5C)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2114880	NM_000043.6(FAS):c.4C>T (p.Leu2=)	ACTA2, FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2104708	NM_000043.6(FAS):c.30+20G>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2034063	NM_000043.6(FAS):c.30+2T>C	ACTA2, FAS	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1703254	NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)	FAS (M219fs +1 more)	Insertion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 1655401	NM_000043.6(FAS):c.30+19G>T	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1601064	NM_000043.6(FAS):c.30+19G>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 1284170	NM_001141945.3(ACTA2):c.-237G>A	ACTA2, FAS +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 1229597	NM_001141945.3(ACTA2):c.-310A>C	ACTA2, FAS +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1213255	NM_000043.6(FAS):c.20T>C (p.Leu7Pro)	ACTA2, FAS (L7P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 878040	NM_000043.6(FAS):c.30+12C>T	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 878039	NM_000043.6(FAS):c.30+6C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 877879	NM_000043.5(FAS):c.-288C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 779595	NC_000010.11:g.88990206A>G	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 636829	NM_000043.6(FAS):c.403dup (p.Cys135fs)	FAS (C135fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 636739	NM_000043.6(FAS):c.191del (p.Pro64fs)	FAS (P64fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 636699	NM_000043.6(FAS):c.815A>C (p.Glu272Ala)	FAS (E272A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 301521	NM_000043.6(FAS):c.-10C>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	Multisystemic smooth muscle dysfunction syndrome +3 more	GUncertain significance
Select item 301520	NM_000043.6(FAS):c.-34A>G	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	Multisystemic smooth muscle dysfunction syndrome +4 more	GBenign/Likely benign
Select item 301519	NM_001141945.3(ACTA2):c.-24+157C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +4 more	GBenign/Likely benign
Select item 301518	NM_001141945.3(ACTA2):c.-24+236C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +3 more	GUncertain significance
Select item 301517	NM_001141945.3(ACTA2):c.-24+357C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 301516	NM_001141945.3(ACTA2):c.-24+399C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +3 more	GUncertain significance
Select item 301515	NM_001141945.3(ACTA2):c.-24+409G>A	ACTA2, FAS	Single nucleotide variant (intron variant)	Multisystemic smooth muscle dysfunction syndrome +4 more	GLikely benign
Select item 301514	NM_001141945.3(ACTA2):c.-24+414_-24+415del	ACTA2, FAS	Deletion (intron variant)	Multisystemic smooth muscle dysfunction syndrome +3 more	GLikely benign
Select item 134375	NM_000043.6(FAS):c.756T>G (p.Asn252Lys)	FAS (N252K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 100802	NM_000043.6(FAS):c.785T>C (p.Ile262Thr)	FAS (I262T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 16517	NM_001141945.3(ACTA2):c.-24+1440C>T	ACTA2, FAS +1 more	Single nucleotide variant (intron variant)	not specified	GBenign

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Items: 36