"GeneDx"[submitter] AND "CCNH"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 136

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	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 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 1676861	NM_002890.3(RASA1):c.540-83C>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187023	NM_002890.3(RASA1):c.540-70T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561432	NM_002890.3(RASA1):c.540-27G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 464869	NM_002890.3(RASA1):c.617T>C (p.Ile206Thr)	CCNH, RASA1 (I206T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 213662	NM_002890.3(RASA1):c.618_621del (p.Ile206fs)	CCNH, RASA1 (I206fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 422710	NM_002890.3(RASA1):c.632_644del (p.Arg211fs)	CCNH, RASA1 (R34fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 561692	NM_002890.3(RASA1):c.669G>C (p.Gln223His)	CCNH, RASA1 (Q223H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1257162	NM_002890.3(RASA1):c.693-274_693-273del	CCNH, RASA1	Deletion (intron variant)	not provided	GBenign
Select item 1215042	NM_002890.3(RASA1):c.693-191T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240938	NM_002890.3(RASA1):c.693-158A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3362071	NM_002890.3(RASA1):c.786G>C (p.Leu262Phe)	CCNH, RASA1 (L262F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318955	NM_002890.3(RASA1):c.828+5G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1215459	NM_002890.3(RASA1):c.828+73G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186105	NM_002890.3(RASA1):c.828+257A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290937	NM_002890.3(RASA1):c.829-193G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198482	NM_002890.3(RASA1):c.829-123T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214231	NM_002890.3(RASA1):c.899+272C>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183573	NM_002890.3(RASA1):c.899+288T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242533	NM_002890.3(RASA1):c.1017+65G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214375	NM_002890.3(RASA1):c.1017+160T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 811536	NM_002890.3(RASA1):c.1049+36dup	CCNH, RASA1	Duplication (intron variant)	not provided	GBenign
Select item 1296261	NM_002890.3(RASA1):c.1049+40A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189373	NM_002890.3(RASA1):c.1049+76A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198984	NM_002890.3(RASA1):c.1049+207A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200912	NM_002890.3(RASA1):c.1050-183A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354514	NM_002890.3(RASA1):c.1102+10T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Parkes Weber syndrome +3 more	GBenign/Likely benign
Select item 1190898	NM_002890.3(RASA1):c.1102+207C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326256	NM_002890.3(RASA1):c.1201del (p.Ile401fs)	CCNH, RASA1 (I224fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2577735	NM_002890.3(RASA1):c.1211C>T (p.Thr404Met)	CCNH, RASA1 (T227M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1196568	NM_002890.3(RASA1):c.1254-54A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 618858	NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter)	CCNH, RASA1 (R250* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 508230	NM_002890.3(RASA1):c.1332+20T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 1210980	NM_002890.3(RASA1):c.1333-309G>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187698	NM_002890.3(RASA1):c.1333-69C>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354516	NM_002890.3(RASA1):c.1371G>A (p.Lys457=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +5 more	GBenign/Likely benign
Select item 432154	NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter)	CCNH, RASA1 (K483* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2575848	NM_002890.3(RASA1):c.1453+1del	CCNH, RASA1	Deletion (splice donor variant +1 more)	not provided	GPathogenic
Select item 449619	NM_002890.3(RASA1):c.1453+1G>T	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 1218485	NM_002890.3(RASA1):c.1453+63C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215471	NM_002890.3(RASA1):c.1453+331G>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506442	NM_002890.3(RASA1):c.1454-7del	CCNH, RASA1	Deletion (intron variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GBenign
Select item 545748	NM_002890.3(RASA1):c.1493_1494dup (p.Gly499fs)	CCNH, RASA1 (G499fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 423107	NM_002890.3(RASA1):c.1491_1494del (p.Glu498fs)	CCNH, RASA1 (E321fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 440233	NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter)	CCNH, RASA1 (R335* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GPathogenic
Select item 946610	NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)	CCNH, RASA1 (R335Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 354519	NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)	CCNH, RASA1 (Y528C +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +5 more	GConflicting classifications of pathogenicity
Select item 1243815	NM_002890.3(RASA1):c.1610+29C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253577	NM_002890.3(RASA1):c.1698+2dup	CCNH, RASA1	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1223436	NM_002890.3(RASA1):c.1699-167_1699-162del	CCNH, RASA1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1253230	NM_002890.3(RASA1):c.1699-132T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235017	NM_002890.3(RASA1):c.1699-70_1699-69dup	CCNH, RASA1	Duplication (intron variant)	not provided	GBenign
Select item 1227458	NM_002890.3(RASA1):c.1699-69dup	CCNH, RASA1	Duplication (intron variant)	not provided	GBenign
Select item 1215388	NM_002890.3(RASA1):c.1699-71_1699-69dup	CCNH, RASA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1194002	NM_002890.3(RASA1):c.1699-35T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195349	NM_002890.3(RASA1):c.1777-3dup	CCNH, RASA1	Duplication (intron variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GBenign/Likely benign
Select item 378887	NM_002890.3(RASA1):c.1777-16A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1198452	NM_002890.3(RASA1):c.1777-4_1777-3del	CCNH, RASA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1178686	NM_002890.3(RASA1):c.1777-3del	CCNH, RASA1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 354520	NM_002890.3(RASA1):c.1777-15_1777-14insA	CCNH, RASA1	Insertion (intron variant)	Parkes Weber syndrome +3 more	GBenign/Likely benign
Select item 213658	NM_002890.3(RASA1):c.1777-14T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +3 more	GBenign
Select item 3253307	NM_002890.3(RASA1):c.1847G>A (p.Cys616Tyr)	CCNH, RASA1 (C439Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1316663	NM_002890.3(RASA1):c.1870C>T (p.Gln624Ter)	CCNH, RASA1 (Q447* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 489180	NM_002890.3(RASA1):c.1934+3A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1276481	NM_002890.3(RASA1):c.1934+140_1934+141insA	CCNH, RASA1	Insertion (intron variant)	not provided	GBenign
Select item 1223141	NM_002890.3(RASA1):c.1934+140_1934+141insATA	CCNH, RASA1	Insertion (intron variant)	not provided	GLikely benign
Select item 1230972	NM_002890.3(RASA1):c.1934+141T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204342	NM_002890.3(RASA1):c.1934+142T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198027	NM_002890.3(RASA1):c.1934+143T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228984	NM_002890.3(RASA1):c.1935-100dup	CCNH, RASA1	Duplication (intron variant)	not provided	GBenign
Select item 464855	NM_002890.3(RASA1):c.1935-3T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1357848	NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs)	CCNH, RASA1 (T485fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2497971	NM_002890.3(RASA1):c.2011+6T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 513196	NM_002890.3(RASA1):c.2011+7T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1237966	NM_002890.3(RASA1):c.2011+56A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186383	NM_002890.3(RASA1):c.2011+149T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291228	NM_002890.3(RASA1):c.2011+237T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 575599	NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys)	CCNH, RASA1 (R674C +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2073204	NM_002890.3(RASA1):c.2077A>G (p.Ser693Gly)	CCNH, RASA1 (S516G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 561932	NM_002890.3(RASA1):c.2093dup (p.Leu698fs)	CCNH, RASA1 (L521fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 449560	NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter)	CCNH, RASA1 (R709* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 213660	NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)	CCNH, RASA1 (R711* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +4 more	GPathogenic
Select item 817948	NM_002890.3(RASA1):c.2149dup (p.Ile717fs)	CCNH, RASA1 (I540fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 280556	NM_002890.3(RASA1):c.2164G>T (p.Glu722Ter)	CCNH, RASA1 (E722* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 213653	NM_002890.3(RASA1):c.2184+9_2184+10insGTTAAA	CCNH, RASA1	Insertion (intron variant)	not specified	GBenign
Select item 1194534	NM_002890.3(RASA1):c.2184+109A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236569	NM_002890.3(RASA1):c.2185-155A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 565648	NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	CCNH, RASA1 (R749* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GPathogenic
Select item 695889	NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)	CCNH, RASA1 (E763V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1187083	NM_002890.3(RASA1):c.2345-111C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561452	NM_002890.3(RASA1):c.2345-69T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620150	NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter)	CCNH, RASA1 (R789* +1 more)	Single nucleotide variant (nonsense +1 more)	Vascular malformation +2 more	GPathogenic
Select item 1200888	NM_002890.3(RASA1):c.2422C>T (p.Gln808Ter)	CCNH, RASA1 (Q631* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 280256	NM_002890.3(RASA1):c.2444_2445del (p.Lys815fs)	CCNH, RASA1 (K638fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 280128	NM_002890.3(RASA1):c.2450_2451del (p.Ser817fs)	CCNH, RASA1 (S640fs +1 more)	Microsatellite (frameshift variant +1 more)	RASA1-related disorder +1 more	GPathogenic
Select item 1700836	NM_002890.3(RASA1):c.2449T>G (p.Ser817Ala)	CCNH, RASA1 (S640A +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 1207806	NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys)	CCNH, RASA1 (S647C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

<< First< Prev

Page of 2