11920[HGNC] - ClinVar - NCBI

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	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 57094	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3	ACTA2, ACTA2-AS1 +21 more	Copy number gain	See cases	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
Select item 779595	NC_000010.11:g.88990206A>G	ACTA2, FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GBenign
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 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 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 301517	NM_001141945.3(ACTA2):c.-24+357C>T	ACTA2, FAS	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
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 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 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)	Multisystemic smooth muscle dysfunction syndrome +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)	Multisystemic smooth muscle dysfunction syndrome +3 more	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 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 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 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 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 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 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 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 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 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 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 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 1966792	NM_000043.6(FAS):c.31-13T>A	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 661911	NM_000043.6(FAS):c.31-8T>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3013405	NM_000043.6(FAS):c.32T>C (p.Val11Ala)	FAS (V11A +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2025749	NM_000043.6(FAS):c.33T>C (p.Val11=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 301523	NM_000043.6(FAS):c.33T>A (p.Val11=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2097629	NM_000043.6(FAS):c.38C>A (p.Thr13Lys)	FAS (T13K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1397597	NM_000043.6(FAS):c.38C>T (p.Thr13Met)	FAS (T13M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 851315	NM_000043.6(FAS):c.38del (p.Thr13fs)	FAS (T13fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1563845	NM_000043.6(FAS):c.39G>A (p.Thr13=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 872242	NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer)	FAS	Deletion (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GPathogenic
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 2083953	NM_000043.6(FAS):c.55T>C (p.Ser19Pro)	FAS (S19P +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2787069	NM_000043.6(FAS):c.56C>T (p.Ser19Leu)	FAS (S19L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1150743	NM_000043.6(FAS):c.57G>A (p.Ser19=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3257941	NM_000043.6(FAS):c.61A>T (p.Lys21Ter)	FAS (K21* +1 more)	Single nucleotide variant (nonsense +1 more)	Neoplasm	OLikely oncogenic
Select item 2983914	NM_000043.6(FAS):c.66T>C (p.Ser22=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2723129	NM_000043.6(FAS):c.67G>A (p.Val23Ile)	FAS (V23I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 16508	NM_000043.6(FAS):c.73G>A (p.Ala25Thr)	FAS (A25T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome, type 1a	GPathogenic
Select item 1409348	NM_000043.6(FAS):c.77A>G (p.Gln26Arg)	FAS (Q26R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 1520853	NM_000043.6(FAS):c.79G>A (p.Val27Met)	FAS (V27M)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 1136089	NM_000043.6(FAS):c.87C>T (p.Asp29=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1044705	NM_000043.6(FAS):c.95C>A (p.Ser32Tyr)	FAS (S32Y)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1449112	NM_000043.6(FAS):c.97A>C (p.Lys33Gln)	FAS (K33Q)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1040507	NM_000043.6(FAS):c.97A>G (p.Lys33Glu)	FAS (K33E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2498466	NM_000043.6(FAS):c.98A>C (p.Lys33Thr)	FAS (K33T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 532232	NM_000043.6(FAS):c.102A>G (p.Gly34=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2155954	NM_000043.6(FAS):c.103T>A (p.Leu35Met)	FAS (L35M +1 more)	Single nucleotide variant (missense 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 provided +2 more	GBenign/Likely benign
Select item 1509252	NM_000043.6(FAS):c.104T>G (p.Leu35Trp)	FAS (L35W)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 580709	NM_000043.6(FAS):c.110T>A (p.Leu37Ter)	FAS (L37*)	Single nucleotide variant (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2698574	NM_000043.6(FAS):c.115A>T (p.Lys39Ter)	FAS (K54* +1 more)	Single nucleotide variant (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2836853	NM_000043.6(FAS):c.136A>C (p.Thr46Pro)	FAS (T46P +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2081225	NM_000043.6(FAS):c.140A>G (p.Gln47Arg)	FAS (Q47R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GConflicting classifications of pathogenicity
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 2012302	NM_000043.6(FAS):c.144C>T (p.Asn48=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2414133	NM_000043.6(FAS):c.145T>C (p.Leu49=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 3017042	NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)	FAS	Duplication (inframe_insertion +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2640668	NM_000043.6(FAS):c.153C>T (p.Gly51=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 857680	NM_000043.6(FAS):c.161A>G (p.His54Arg)	FAS (H54R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2169310	NM_000043.6(FAS):c.162T>C (p.His54=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1429679	NM_000043.6(FAS):c.163G>C (p.Asp55His)	FAS (D55H)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 2002840	NM_000043.6(FAS):c.174C>T (p.Phe58=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2762517	NM_000043.6(FAS):c.175T>A (p.Cys59Ser)	FAS (C74S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 802617	NM_000043.6(FAS):c.178del (p.His60fs)	FAS (H60fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1439236	NM_000043.6(FAS):c.179A>G (p.His60Arg)	FAS (H60R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1413808	NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs)	FAS (K61fs)	Insertion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
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 806000	NM_000043.6(FAS):c.185C>G (p.Pro62Arg)	FAS (P62R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2811621	NM_000043.6(FAS):c.187T>C (p.Cys63Arg)	FAS (C78R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 636739	NM_000043.6(FAS):c.191del (p.Pro64fs)	FAS (P64fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2047175	NM_000043.6(FAS):c.195A>G (p.Pro65=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2105287	NM_000043.6(FAS):c.196+2dup	FAS	Duplication (splice donor variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1003135	NM_000043.6(FAS):c.196+3A>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2851870	NM_000043.6(FAS):c.196+5G>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2159363	NM_000043.6(FAS):c.196+17A>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 1588642	NM_000043.6(FAS):c.197-18C>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1632415	NM_000043.6(FAS):c.197-11T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1529362	NM_000043.6(FAS):c.197-11T>A	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1566764	NM_000043.6(FAS):c.197-8T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 598753	NM_000043.6(FAS):c.197-2A>G	FAS	Single nucleotide variant (splice acceptor variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 1473254	NM_000043.6(FAS):c.197-1G>A	FAS	Single nucleotide variant (splice acceptor variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2959237	NM_000043.6(FAS):c.204G>T (p.Arg68Ser)	FAS (R83S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 749195	NM_000043.6(FAS):c.216C>T (p.Asp72=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1023229	NM_000043.6(FAS):c.217T>G (p.Cys73Gly)	FAS (C73G)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1415216	NM_000043.6(FAS):c.218G>C (p.Cys73Ser)	FAS (C73S)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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

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