"GeneDx"[submitter] AND "FAS"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
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 301520	NM_000043.6(FAS):c.-34A>G	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
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 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 134371	NM_000043.6(FAS):c.46G>A (p.Ala16Thr)	FAS (A16T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign/Likely benign
Select item 301525	NM_000043.6(FAS):c.141G>A (p.Gln47=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +2 more	GBenign
Select item 155871	NM_000043.6(FAS):c.183G>A (p.Lys61=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1291169	NM_000043.6(FAS):c.196+176C>T	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238747	NM_000043.6(FAS):c.197-110C>T	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277444	NM_000043.6(FAS):c.197-62G>C	FAS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 301527	NM_000043.6(FAS):c.222A>G (p.Thr74=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1395111	NM_000043.6(FAS):c.332A>G (p.His111Arg)	FAS (H111R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1235502	NM_000043.6(FAS):c.334+46C>T	FAS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1213114	NM_000043.6(FAS):c.334+325G>T	FAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 134372	NM_000043.6(FAS):c.365C>T (p.Thr122Ile)	FAS (T122I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign/Likely benign
Select item 210992	NM_000043.6(FAS):c.369G>A (p.Gln123=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2779353	NM_000043.6(FAS):c.412A>G (p.Thr138Ala)	FAS (T138A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504015	NM_000043.6(FAS):c.441del (p.Lys148fs)	FAS (K148fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 265139	NM_000043.6(FAS):c.443+1G>A	FAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1237002	NM_000043.6(FAS):c.443+211A>G	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276011	NM_000043.6(FAS):c.443+299G>A	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290654	NM_000043.6(FAS):c.444-298T>C	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177794	NM_000043.6(FAS):c.444-209_444-208del	FAS	Microsatellite (intron variant)	not provided	GBenign
Select item 522237	NM_000043.6(FAS):c.505+16C>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign
Select item 1291170	NM_000043.6(FAS):c.506-71C>G	FAS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 301530	NM_000043.6(FAS):c.550A>G (p.Ile184Val)	FAS (I184V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1288980	NM_000043.6(FAS):c.568+280C>T	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187297	NM_000043.6(FAS):c.569-251A>G	FAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288917	NM_000043.6(FAS):c.569-144G>A	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522316	NM_000043.6(FAS):c.578A>G (p.Lys193Arg)	FAS (K193R +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 134374	NM_000043.6(FAS):c.580G>A (p.Glu194Lys)	FAS (E194K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254734	NM_000043.6(FAS):c.642T>C (p.Thr214=)	FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1 +2 more	GBenign
Select item 1280856	NM_000043.6(FAS):c.651+43T>G	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280025	NM_000043.6(FAS):c.652-319A>G	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285833	NM_000043.6(FAS):c.652-266A>C	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426443	NM_000043.6(FAS):c.661del (p.Ala221fs)	FAS (A200fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 504442	NM_000043.6(FAS):c.664del (p.Ala221_Ile222insTer)	FAS (N194fs)	Deletion (nonsense +3 more)	not provided	GLikely pathogenic
Select item 1260973	NM_000043.6(FAS):c.676+75G>A	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250840	NM_000043.6(FAS):c.676+179A>G	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225452	NM_000043.6(FAS):c.676+239C>A	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188176	NM_000043.6(FAS):c.676+297G>C	FAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221873	NM_000043.6(FAS):c.677-95T>C	FAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304408	NM_000043.6(FAS):c.718A>G (p.Met240Val)	FAS (M219V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1067934	NM_000043.6(FAS):c.778G>A (p.Asp260Asn)	FAS (D239N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 381554	NM_000043.6(FAS):c.785T>A (p.Ile262Asn)	FAS (I262N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2573797	NM_000043.6(FAS):c.794A>G (p.Asp265Gly)	FAS (D244G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 265400	NM_000043.6(FAS):c.879_880del (p.Leu294fs)	FAS (L273fs +1 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GPathogenic
Select item 301534	NM_000043.6(FAS):c.*142A>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign

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Items: 50