"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CCNH"[g - 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	CCNH, LOC644285 +1 more	Deletion	Capillary malformation-arteriovenous malformation 1 +1 more	GPathogenic
Select item 1674104	NM_002890.3(RASA1):c.540-19T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2162430	NM_002890.3(RASA1):c.540-15_540-14del	CCNH, RASA1	Microsatellite (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2413923	NM_002890.3(RASA1):c.540-4C>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1346633	NM_002890.3(RASA1):c.540-2A>C	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 2811228	NM_002890.3(RASA1):c.549C>A (p.His183Gln)	CCNH, RASA1 (H183Q +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1747907	NM_002890.3(RASA1):c.549C>T (p.His183=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2172182	NM_002890.3(RASA1):c.558T>C (p.Leu186=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 854888	NM_002890.3(RASA1):c.566C>T (p.Thr189Met)	CCNH, RASA1 (T12M +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 904568	NM_002890.3(RASA1):c.567G>A (p.Thr189=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 854189	NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)	CCNH, RASA1 (L18fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2845548	NM_002890.3(RASA1):c.577G>A (p.Glu193Lys)	CCNH, RASA1 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2850626	NM_002890.3(RASA1):c.583del (p.Leu195fs)	CCNH, RASA1 (L18fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 3002021	NM_002890.3(RASA1):c.587G>C (p.Arg196Thr)	CCNH, RASA1 (R19T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2162962	NM_002890.3(RASA1):c.587G>A (p.Arg196Lys)	CCNH, RASA1 (R196K +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 2682893	NM_002890.3(RASA1):c.599A>T (p.Lys200Met)	CCNH, RASA1 (K200M +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 2174717	NM_002890.3(RASA1):c.600G>A (p.Lys200=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 946977	NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)	CCNH, RASA1 (S24F +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1945714	NM_002890.3(RASA1):c.606C>T (p.Gly202=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1662378	NM_002890.3(RASA1):c.606C>G (p.Gly202=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1717317	NM_002890.3(RASA1):c.607A>C (p.Ser203Arg)	CCNH, RASA1 (S203R +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2180426	NM_002890.3(RASA1):c.608G>A (p.Ser203Asn)	CCNH, RASA1 (S203N +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 411714	NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	CCNH, RASA1 (L205fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 2152003	NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)	CCNH, RASA1 (Y27* +1 more)	Duplication (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 354511	NM_002890.3(RASA1):c.612T>C (p.Tyr204=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Parkes Weber syndrome +4 more	GBenign/Likely benign
Select item 1508597	NM_002890.3(RASA1):c.616A>G (p.Ile206Val)	CCNH, RASA1 (I29V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1459034	NM_002890.3(RASA1):c.617_621del (p.Ile206fs)	CCNH, RASA1 (I206fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
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 1410488	NM_002890.3(RASA1):c.618A>C (p.Ile206=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1936217	NM_002890.3(RASA1):c.628G>A (p.Asp210Asn)	CCNH, RASA1 (D210N +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1388057	NM_002890.3(RASA1):c.637C>T (p.Pro213Ser)	CCNH, RASA1 (P213S +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1950096	NM_002890.3(RASA1):c.644C>T (p.Ser215Phe)	CCNH, RASA1 (S215F +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2829407	NM_002890.3(RASA1):c.651A>G (p.Val217=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 946978	NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)	CCNH, RASA1 (S42L +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 464870	NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	CCNH, RASA1 (S219* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 1945546	NM_002890.3(RASA1):c.669G>A (p.Gln223=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2421944	NM_002890.3(RASA1):c.672G>A (p.Met224Ile)	CCNH, RASA1 (M224I +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 3022925	NM_002890.3(RASA1):c.675T>C (p.Asn225=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2918070	NM_002890.3(RASA1):c.679G>T (p.Val227Phe)	CCNH, RASA1 (V227F +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2151144	NM_002890.3(RASA1):c.680T>C (p.Val227Ala)	CCNH, RASA1 (V50A +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 733519	NM_002890.3(RASA1):c.684C>T (p.Asn228=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2914763	NM_002890.3(RASA1):c.690T>C (p.Phe230=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2909610	NM_002890.3(RASA1):c.692+6T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2133417	NM_002890.3(RASA1):c.692+8T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1532448	NM_002890.3(RASA1):c.692+10del	CCNH, RASA1	Deletion (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1568039	NM_002890.3(RASA1):c.692+17A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2902268	NM_002890.3(RASA1):c.693-20A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1600190	NM_002890.3(RASA1):c.693-14dup	CCNH, RASA1	Duplication (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GBenign
Select item 856732	NM_002890.3(RASA1):c.693-6_711del	CCNH, RASA1	Deletion (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 939405	NM_002890.3(RASA1):c.693-5A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2994520	NM_002890.3(RASA1):c.694A>G (p.Ile232Val)	CCNH, RASA1 (I55V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1757246	NM_002890.3(RASA1):c.711A>C (p.Gly237=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 1982780	NM_002890.3(RASA1):c.735T>G (p.Arg245=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2899021	NM_002890.3(RASA1):c.753C>G (p.Asp251Glu)	CCNH, RASA1 (D251E +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2051802	NM_002890.3(RASA1):c.754C>T (p.Leu252=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2702895	NM_002890.3(RASA1):c.774T>C (p.His258=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2734735	NM_002890.3(RASA1):c.806_810del (p.Leu269fs)	CCNH, RASA1 (L269fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2114634	NM_002890.3(RASA1):c.805C>G (p.Leu269Val)	CCNH, RASA1 (L92V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1637346	NM_002890.3(RASA1):c.810C>T (p.Tyr270=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2162618	NM_002890.3(RASA1):c.825A>G (p.Pro275=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2068977	NM_002890.3(RASA1):c.828+1G>T	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 1065978	NM_002890.3(RASA1):c.828+1G>A	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 1524107	NM_002890.3(RASA1):c.828+5G>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2033138	NM_002890.3(RASA1):c.828+9A>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2865936	NM_002890.3(RASA1):c.828+12G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1625756	NM_002890.3(RASA1):c.829-11dup	CCNH, RASA1	Duplication (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 354512	NM_002890.3(RASA1):c.829-12T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 772400	NM_002890.3(RASA1):c.829-9G>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567666	NM_002890.3(RASA1):c.829-8G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 772401	NM_002890.3(RASA1):c.829-8G>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665137	NM_002890.3(RASA1):c.829-7T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2128294	NM_002890.3(RASA1):c.839A>G (p.Asp280Gly)	CCNH, RASA1 (D280G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2706090	NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)	CCNH, RASA1 (R104* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 938481	NM_002890.3(RASA1):c.848G>A (p.Arg283His)	CCNH, RASA1 (R106H +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GUncertain significance
Select item 16001	NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)	CCNH, RASA1 (R285* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 939267	NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)	CCNH, RASA1 (R285Q +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 751338	NM_002890.3(RASA1):c.864A>G (p.Leu288=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1719892	NM_002890.3(RASA1):c.874A>G (p.Lys292Glu)	CCNH, RASA1 (K115E +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 905356	NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)	CCNH, RASA1 (D295E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2003753	NM_002890.3(RASA1):c.899_899+3del	CCNH, RASA1	Deletion (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely pathogenic
Select item 354513	NM_002890.3(RASA1):c.899+8A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 1546770	NM_002890.3(RASA1):c.899+10A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2888820	NM_002890.3(RASA1):c.899+12T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2042790	NM_002890.3(RASA1):c.900-14A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 2741175	NM_002890.3(RASA1):c.900-13T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2057936	NM_002890.3(RASA1):c.900-8A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 2697551	NM_002890.3(RASA1):c.902dup (p.Gly304fs)	CCNH, RASA1 (G127fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 1365972	NM_002890.3(RASA1):c.909A>G (p.Lys303=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1515538	NM_002890.3(RASA1):c.914A>G (p.Asp305Gly)	CCNH, RASA1 (D128G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 533450	NM_002890.3(RASA1):c.917T>C (p.Met306Thr)	CCNH, RASA1 (M306T +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related disorder +2 more	GUncertain significance
Select item 2169253	NM_002890.3(RASA1):c.924T>C (p.Ile308=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1559619	NM_002890.3(RASA1):c.948A>G (p.Gly316=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2734736	NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)	CCNH, RASA1 (W142* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome	GPathogenic
Select item 2962476	NM_002890.3(RASA1):c.967T>C (p.Leu323=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign
Select item 1402818	NM_002890.3(RASA1):c.992T>C (p.Ile331Thr)	CCNH, RASA1 (I154T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1957303	NM_002890.3(RASA1):c.1000G>C (p.Asp334His)	CCNH, RASA1 (D157H +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1346994	NM_002890.3(RASA1):c.1010A>T (p.Glu337Val)	CCNH, RASA1 (E160V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 972332	NM_002890.3(RASA1):c.1017delinsTTAC (p.Val339_Gly340insTyr)	CCNH, RASA1	Indel (inframe_insertion +1 more)	Capillary malformation-arteriovenous malformation syndrome	GUncertain significance
Select item 1627064	NM_002890.3(RASA1):c.1017+13C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome	GLikely benign

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