5921[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57325	GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1	CCNH, COX7C +60 more	Copy number loss	See cases	GPathogenic
Select item 59628	GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1	LOC129994182, LOC132089304 +52 more	Copy number loss	See cases	GPathogenic
Select item 151699	GRCh38/hg38 5q14.3(chr5:86658611-87608243)x1	CCNH, LINC01949 +22 more	Copy number loss	See cases	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 146291	GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1	CCNH, CRE1 +53 more	Copy number loss	See cases	GPathogenic
Select item 1219209	NM_002890.3(RASA1):c.-515C>T	RASA1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1252411	NM_002890.3(RASA1):c.-493dup	RASA1	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 1279556	NM_002890.3(RASA1):c.-299T>G	RASA1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 354501	NM_002890.3(RASA1):c.-198G>T	RASA1	Single nucleotide variant (5 prime UTR variant)	Parkes Weber syndrome +2 more	GLikely benign
Select item 354502	NM_002890.3(RASA1):c.-179A>C	RASA1	Single nucleotide variant (5 prime UTR variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354503	NM_002890.3(RASA1):c.-128GTT[2]	RASA1	Microsatellite (5 prime UTR variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GLikely benign
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 1769340	NM_002890.3(RASA1):c.12C>A (p.Ala4=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1784159	NM_002890.3(RASA1):c.19G>A (p.Gly7Ser)	RASA1 (G7S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624992	NM_002890.3(RASA1):c.22A>C (p.Ser8Arg)	RASA1 (S8R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2435377	NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)	RASA1 (S8L)	Inversion (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2624991	NM_002890.3(RASA1):c.23G>T (p.Ser8Ile)	RASA1 (S8I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1736875	NM_002890.3(RASA1):c.39G>A (p.Pro13=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 906889	NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)	RASA1 (T15I)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1	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 2568104	NM_002890.3(RASA1):c.67G>A (p.Ala23Thr)	RASA1 (A23T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 618343	NM_002890.3(RASA1):c.71C>G (p.Ala24Gly)	RASA1 (A24G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1760692	NM_002890.3(RASA1):c.77G>T (p.Gly26Val)	RASA1 (G26V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
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 907877	NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)	RASA1 (S27P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
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 1773698	NM_002890.3(RASA1):c.103C>T (p.Arg35Trp)	RASA1 (R35W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779931	NM_002890.3(RASA1):c.105G>A (p.Arg35=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1741722	NM_002890.3(RASA1):c.117C>G (p.Pro39=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1765087	NM_002890.3(RASA1):c.126G>A (p.Leu42=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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

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