"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCNH"[gen - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630783	NM_002890.3(RASA1):c.577dup (p.Glu193fs)	CCNH, RASA1 (E16fs +1 more)	Duplication (frameshift variant +1 more)	RASA1-related condition	GPathogenic
Select item 16001	NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)	CCNH, RASA1 (R285* +1 more)	Single nucleotide variant (nonsense +1 more)	Vascular malformation +3 more	GPathogenic
Select item 533450	NM_002890.3(RASA1):c.917T>C (p.Met306Thr)	CCNH, RASA1 (M306T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GUncertain significance
Select item 701624	NM_002890.3(RASA1):c.1332+8T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	RASA1-related condition +2 more	GBenign/Likely benign
Select item 698544	NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe)	CCNH, RASA1 (L450F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 354516	NM_002890.3(RASA1):c.1371G>A (p.Lys457=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 354517	NM_002890.3(RASA1):c.1394G>A (p.Arg465His)	CCNH, RASA1 (R465H +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +4 more	GBenign/Likely benign
Select item 1582507	NM_002890.3(RASA1):c.1454-6A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	RASA1-related condition +1 more	GLikely benign
Select item 2633354	NM_002890.3(RASA1):c.1486del (p.Ile496fs)	CCNH, RASA1 (I319fs +1 more)	Deletion (frameshift variant +1 more)	RASA1-related condition	GLikely pathogenic
Select item 2509750	NM_002890.3(RASA1):c.1504G>T (p.Ala502Ser)	CCNH, RASA1 (A325S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3054126	NM_002890.3(RASA1):c.1505C>T (p.Ala502Val)	CCNH, RASA1 (A325V +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related condition	GLikely benign
Select item 354519	NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)	CCNH, RASA1 (Y528C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2630571	NM_002890.3(RASA1):c.1611-2A>G	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	RASA1-related condition	GLikely pathogenic
Select item 464854	NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)	CCNH, RASA1 (Y553* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 2630035	NM_002890.3(RASA1):c.1804G>T (p.Glu602Ter)	CCNH, RASA1 (E425* +1 more)	Single nucleotide variant (nonsense +1 more)	RASA1-related condition	GLikely pathogenic
Select item 3053238	NM_002890.3(RASA1):c.2120G>A (p.Arg707His)	CCNH, RASA1 (R530H +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related condition	GUncertain significance
Select item 2630115	NM_002890.3(RASA1):c.2184+1G>A	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	RASA1-related condition	GLikely pathogenic
Select item 620150	NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter)	CCNH, RASA1 (R789* +1 more)	Single nucleotide variant (nonsense +1 more)	RASA1-related condition +3 more	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 condition +1 more	GPathogenic
Select item 239411	NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn)	CCNH, RASA1 (T843N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 1316222	NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln)	CCNH, RASA1 (R726Q +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3037536	NM_002890.3(RASA1):c.2756C>T (p.Ser919Leu)	CCNH, RASA1 (S742L +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related condition	GUncertain significance
Select item 699856	NM_002890.3(RASA1):c.2766A>T (p.Pro922=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 533443	NM_002890.3(RASA1):c.2773A>G (p.Ile925Val)	CCNH, RASA1 (I925V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2632301	NM_002890.3(RASA1):c.2855A>C (p.Tyr952Ser)	CCNH, RASA1 (Y775S +1 more)	Single nucleotide variant (missense variant +1 more)	RASA1-related condition	GUncertain significance
Select item 3057153	NM_002890.3(RASA1):c.2970C>T (p.Asp990=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	RASA1-related condition	GLikely benign
Select item 533454	NM_002890.3(RASA1):c.3060+10C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +1 more	GLikely benign
Select item 2631455	NM_002890.3(RASA1):c.3073_3082del (p.Lys1025fs)	CCNH, RASA1 (K1025fs +1 more)	Deletion (frameshift variant +3 more)	RASA1-related condition	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28