"Invitae"[submitter] AND "RASA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464851	NC_000005.10:g.(?_87268432)_(87353255_?)del	CCNH, LOC644285 +1 more	Deletion	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 655225	NC_000005.10:g.(?_87268442)_(87353245_?)del	LOC644285, CCNH +1 more	Deletion	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 2802269	NM_002890.3(RASA1):c.1A>G (p.Met1Val)	RASA1 (M1V)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2036799	NM_002890.3(RASA1):c.17_31del (p.Ala6_Glu10del)	RASA1	Deletion (inframe_deletion)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1402800	NM_002890.3(RASA1):c.17_28del (p.Ala6_Glu9del)	RASA1	Deletion (inframe_deletion)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 411715	NM_002890.3(RASA1):c.17C>T (p.Ala6Val)	RASA1 (A6V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2919243	NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)	RASA1 (G7R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1986090	NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)	RASA1 (S8T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 954857	NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)	RASA1 (E9D)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 2760024	NM_002890.3(RASA1):c.29A>T (p.Glu10Val)	RASA1 (E10V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1941402	NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)	RASA1 (G11S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1439829	NM_002890.3(RASA1):c.34G>T (p.Gly12Cys)	RASA1 (G12C)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1035725	NM_002890.3(RASA1):c.34G>A (p.Gly12Ser)	RASA1 (G12S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2815388	NM_002890.3(RASA1):c.36C>T (p.Gly12=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2907518	NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)	RASA1 (P13R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1656594	NM_002890.3(RASA1):c.39G>T (p.Pro13=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2062502	NM_002890.3(RASA1):c.42A>T (p.Val14=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2170666	NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)	RASA1 (T15A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1618420	NM_002890.3(RASA1):c.48C>A (p.Ala16=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2120114	NM_002890.3(RASA1):c.50G>T (p.Gly17Val)	RASA1 (G17V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1523885	NM_002890.3(RASA1):c.62G>A (p.Gly21Asp)	RASA1 (G21D)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 618857	NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)	RASA1 (G22C)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 2879960	NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)	RASA1 (A23P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1511408	NM_002890.3(RASA1):c.68C>G (p.Ala23Gly)	RASA1 (A23G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1593344	NM_002890.3(RASA1):c.75G>C (p.Ala25=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 907876	NM_002890.3(RASA1):c.75G>A (p.Ala25=)	RASA1	Single nucleotide variant (synonymous variant)	RASA1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2042873	NM_002890.3(RASA1):c.78del (p.Ser27fs)	RASA1 (S27fs)	Deletion (frameshift variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 733588	NM_002890.3(RASA1):c.78C>T (p.Gly26=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2888181	NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)	RASA1 (S27F)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2742637	NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)	RASA1 (S28G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2144140	NM_002890.3(RASA1):c.85G>T (p.Ala29Ser)	RASA1 (A29S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1358357	NM_002890.3(RASA1):c.85G>A (p.Ala29Thr)	RASA1 (A29T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2887526	NM_002890.3(RASA1):c.87C>T (p.Ala29=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2850285	NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)	RASA1 (Y30N)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1446960	NM_002890.3(RASA1):c.89A>G (p.Tyr30Cys)	RASA1 (Y30C)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1974509	NM_002890.3(RASA1):c.91C>T (p.Pro31Ser)	RASA1 (P31S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1714916	NM_002890.3(RASA1):c.91C>A (p.Pro31Thr)	RASA1 (P31T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2125725	NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)	RASA1 (P31L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1038042	NM_002890.3(RASA1):c.92C>G (p.Pro31Arg)	RASA1 (P31R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1385129	NM_002890.3(RASA1):c.98T>C (p.Val33Ala)	RASA1 (V33A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1503670	NM_002890.3(RASA1):c.100T>C (p.Cys34Arg)	RASA1 (C34R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1085770	NM_002890.3(RASA1):c.105G>T (p.Arg35=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 961583	NM_002890.3(RASA1):c.110A>G (p.Lys37Arg)	RASA1 (K37R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2039905	NM_002890.3(RASA1):c.111G>C (p.Lys37Asn)	RASA1 (K37N)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1002270	NM_002890.3(RASA1):c.115C>G (p.Pro39Ala)	RASA1 (P39A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2918779	NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)	RASA1 (P39L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3008078	NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)	RASA1 (A40T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1932536	NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)	RASA1 (A40S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1898350	NM_002890.3(RASA1):c.123C>G (p.Ala41=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1757893	NM_002890.3(RASA1):c.123C>T (p.Ala41=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 1097582	NM_002890.3(RASA1):c.124C>T (p.Leu42=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1168030	NM_002890.3(RASA1):c.126G>T (p.Leu42=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1949474	NM_002890.3(RASA1):c.129T>C (p.Pro43=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2001727	NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)	RASA1	Indel (nonsense)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2147956	NM_002890.3(RASA1):c.138C>T (p.Ala46=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2098797	NM_002890.3(RASA1):c.141C>G (p.Ala47=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 3012003	NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)	RASA1 (P48A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2727259	NM_002890.3(RASA1):c.142C>T (p.Pro48Ser)	RASA1 (P48S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 935233	NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)	RASA1 (P48R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 659874	NM_002890.3(RASA1):c.143C>A (p.Pro48His)	RASA1 (P48H)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1772897	NM_002890.3(RASA1):c.144C>T (p.Pro48=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 642840	NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys)	RASA1 (Y49C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1715086	NM_002890.3(RASA1):c.149C>T (p.Pro50Leu)	RASA1 (P50L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2719789	NM_002890.3(RASA1):c.154C>G (p.Leu52Val)	RASA1 (L52V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1420857	NM_002890.3(RASA1):c.157G>C (p.Val53Leu)	RASA1 (V53L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 464852	NM_002890.3(RASA1):c.162G>C (p.Glu54Asp)	RASA1 (E54D)	Single nucleotide variant (missense variant)	RASA1-related condition +3 more	GBenign/Likely benign
Select item 1495649	NM_002890.3(RASA1):c.163A>G (p.Thr55Ala)	RASA1 (T55A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1409520	NM_002890.3(RASA1):c.169G>A (p.Val57Met)	RASA1 (V57M)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2718112	NM_002890.3(RASA1):c.171G>C (p.Val57=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1534148	NM_002890.3(RASA1):c.171G>A (p.Val57=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1075206	NM_002890.3(RASA1):c.172_173del (p.Ala58fs)	RASA1 (A58fs)	Deletion (frameshift variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 1515753	NM_002890.3(RASA1):c.179C>T (p.Thr60Ile)	RASA1 (T60I)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 1056417	NM_002890.3(RASA1):c.187G>A (p.Gly63Ser)	RASA1 (G63S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 640399	NM_002890.3(RASA1):c.188G>T (p.Gly63Val)	RASA1 (G63V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 533452	NM_002890.3(RASA1):c.190G>A (p.Gly64Arg)	RASA1 (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1558536	NM_002890.3(RASA1):c.195C>T (p.Ala65=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2059173	NM_002890.3(RASA1):c.202G>C (p.Gly68Arg)	RASA1 (G68R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 642083	NM_002890.3(RASA1):c.202G>A (p.Gly68Arg)	RASA1 (G68R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2143832	NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)	RASA1 (E70Q)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 354504	NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)	RASA1 (E70G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1387518	NM_002890.3(RASA1):c.211T>C (p.Phe71Leu)	RASA1 (F71L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1386681	NM_002890.3(RASA1):c.220G>T (p.Ala74Ser)	RASA1 (A74S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1402687	NM_002890.3(RASA1):c.223G>C (p.Gly75Arg)	RASA1 (G75R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 354505	NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)	RASA1 (G75A)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1720566	NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)	RASA1 (S76I)	Indel (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 1980651	NM_002890.3(RASA1):c.230T>G (p.Val77Gly)	RASA1 (V77G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1980817	NM_002890.3(RASA1):c.234A>T (p.Ala78=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1000681	NM_002890.3(RASA1):c.239C>T (p.Ala80Val)	RASA1 (A80V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +2 more	GUncertain significance
Select item 2913122	NM_002890.3(RASA1):c.240A>G (p.Ala80=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1010983	NM_002890.3(RASA1):c.241C>G (p.Leu81Val)	RASA1 (L81V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1791469	NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)	RASA1 (G82R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 1046986	NM_002890.3(RASA1):c.244G>A (p.Gly82Arg)	RASA1 (G82R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 834799	NM_002890.3(RASA1):c.244G>T (p.Gly82Trp)	RASA1 (G82W)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2154817	NM_002890.3(RASA1):c.246G>A (p.Gly82=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1445703	NM_002890.3(RASA1):c.248G>C (p.Gly83Ala)	RASA1 (G83A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1059252	NM_002890.3(RASA1):c.248G>T (p.Gly83Val)	RASA1 (G83V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 354506	NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)	RASA1 (G83E)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +3 more	GUncertain significance
Select item 1575567	NM_002890.3(RASA1):c.249A>T (p.Gly83=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2724799	NM_002890.3(RASA1):c.250G>A (p.Ala84Thr)	RASA1 (A84T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1792381	NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)	RASA1 (A84P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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