"Illumina Laboratory Services, Illumina"[submitter] AND "FAS"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301514	NM_001141945.3(ACTA2):c.-24+414_-24+415del	ACTA2, FAS	Deletion (intron variant)	Moyamoya disease +3 more	GLikely benign
Select item 301515	NM_001141945.3(ACTA2):c.-24+409G>A	ACTA2, FAS	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 301516	NM_001141945.3(ACTA2):c.-24+399C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GUncertain significance
Select item 301517	NM_001141945.3(ACTA2):c.-24+357C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GLikely benign
Select item 877879	NM_001141945.3(ACTA2):c.-24+350G>A	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301518	NM_001141945.3(ACTA2):c.-24+236C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Moyamoya disease +3 more	GUncertain significance
Select item 301519	NM_001141945.3(ACTA2):c.-24+157C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +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)	Moyamoya disease +4 more	GBenign/Likely benign
Select item 301521	NM_000043.6(FAS):c.-10C>A	ACTA2, FAS	Single nucleotide variant (5 prime UTR variant +2 more)	Moyamoya disease +3 more	GUncertain significance
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 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 301522	NM_000043.6(FAS):c.31-9A>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301523	NM_000043.6(FAS):c.33T>A (p.Val11=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 134371	NM_000043.6(FAS):c.46G>A (p.Ala16Thr)	FAS (A16T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 878041	NM_000043.6(FAS):c.78A>G (p.Gln26=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign/Likely benign
Select item 879503	NM_000043.6(FAS):c.84T>C (p.Thr28=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301524	NM_000043.6(FAS):c.103T>C (p.Leu35=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not specified +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 +1 more	GBenign
Select item 301526	NM_000043.6(FAS):c.176G>T (p.Cys59Phe)	FAS (C59F)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 155871	NM_000043.6(FAS):c.183G>A (p.Lys61=)	FAS	Single nucleotide variant (synonymous variant +1 more)	FAS-related condition +3 more	GBenign
Select item 301527	NM_000043.6(FAS):c.222A>G (p.Thr74=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 879504	NM_000043.6(FAS):c.251C>T (p.Pro84Leu)	FAS (P84L)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 134372	NM_000043.6(FAS):c.365C>T (p.Thr122Ile)	FAS (T122I)	Single nucleotide variant (missense variant +1 more)	not provided +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)	FAS-related condition +3 more	GBenign/Likely benign
Select item 301528	NM_000043.6(FAS):c.432C>T (p.Asp144=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GConflicting classifications of pathogenicity
Select item 301529	NM_000043.6(FAS):c.444-5del	FAS	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GConflicting classifications of pathogenicity
Select item 856011	NM_000043.6(FAS):c.488C>T (p.Thr163Ile)	FAS (T163I)	Single nucleotide variant (missense variant +1 more)	FAS-related condition +1 more	GUncertain significance
Select item 301530	NM_000043.6(FAS):c.550A>G (p.Ile184Val)	FAS (I184V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 522316	NM_000043.6(FAS):c.578A>G (p.Lys193Arg)	FAS (K193R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +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)	FAS-related condition +3 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)	not specified +2 more	GBenign
Select item 879872	NM_000043.6(FAS):c.652-12T>A	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 877927	NM_000043.6(FAS):c.676+12A>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 877928	NM_000043.6(FAS):c.694T>C (p.Tyr232His)	FAS (Y232H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301531	NM_000043.6(FAS):c.867A>C (p.Glu289Asp)	FAS (E289D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 877929	NM_000043.6(FAS):c.*70G>C	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 301532	NM_000043.6(FAS):c.*84G>A	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 301533	NM_000043.6(FAS):c.*88T>C	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 877930	NM_000043.6(FAS):c.*119C>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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
Select item 301535	NM_000043.6(FAS):c.*174A>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 878092	NM_000043.6(FAS):c.*386A>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 878093	NM_000043.6(FAS):c.*436C>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 301536	NM_000043.6(FAS):c.*520T>C	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301537	NM_000043.6(FAS):c.*565A>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 301538	NM_000043.6(FAS):c.*566C>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301539	NM_000043.6(FAS):c.*582T>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 878094	NM_000043.6(FAS):c.*586G>A	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301540	NM_000043.6(FAS):c.*638T>C	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 301541	NM_000043.6(FAS):c.*765T>C	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 879549	NM_000043.6(FAS):c.*839A>G	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301542	NM_000043.6(FAS):c.*853C>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 879550	NM_000043.6(FAS):c.*874T>A	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301543	NM_000043.6(FAS):c.*978C>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 301544	NM_000043.6(FAS):c.*1084C>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 879551	NM_000043.6(FAS):c.*1153A>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 879917	NM_000043.6(FAS):c.*1203G>A	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 301545	NM_000043.6(FAS):c.*1294A>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 879918	NM_000043.6(FAS):c.*1313G>A	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 301546	NM_000043.6(FAS):c.*1333G>T	FAS	Single nucleotide variant (3 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GBenign

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Items: 60