5894[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 1879571	NC_000003.12:g.12582223C>T	MKRN2, RAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 902116	NM_002880.4(RAF1):c.*841C>T	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 903003	NM_002880.4(RAF1):c.*840A>T	MKRN2, RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343091	NM_002880.4(RAF1):c.*729AACA[6]	RAF1	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 343092	NM_002880.4(RAF1):c.*729AACA[4]	RAF1	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2653541	NM_002880.4(RAF1):c.710_737dup	RAF1	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 903004	NM_002880.4(RAF1):c.*706C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 903005	NM_002880.4(RAF1):c.*647G>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 899385	NM_002880.4(RAF1):c.*643C>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 343093	NM_002880.4(RAF1):c.*640T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899386	NM_002880.4(RAF1):c.*630A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899387	NM_002880.4(RAF1):c.*628G>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343094	NM_002880.4(RAF1):c.*627C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343095	NM_002880.4(RAF1):c.*606A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343096	NM_002880.4(RAF1):c.*556G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343097	NM_002880.4(RAF1):c.*495C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 900510	NM_002880.4(RAF1):c.*410A>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 902168	NM_002880.4(RAF1):c.*404G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 343098	NM_002880.4(RAF1):c.*348T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +2 more	GBenign/Likely benign
Select item 40631	NM_002880.4(RAF1):c.*266C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +2 more	GBenign
Select item 343099	NM_002880.4(RAF1):c.*190G>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343100	NM_002880.4(RAF1):c.*162T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343101	NM_002880.4(RAF1):c.*160C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome 5 +1 more	GBenign/Likely benign
Select item 903051	NM_002880.4(RAF1):c.*120C>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 343102	NM_002880.4(RAF1):c.*113T>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 899431	NM_002880.4(RAF1):c.*110T>C	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +2 more	GBenign/Likely benign
Select item 40630	NM_002880.4(RAF1):c.*83C>T	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 899432	NM_002880.4(RAF1):c.*73T>A	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	LEOPARD syndrome 2 +1 more	GUncertain significance
Select item 642037	NC_000003.11:g.(?_12626003)_(12660230_?)dup	LOC129389024, RAF1	Duplication	RASopathy	GUncertain significance
Select item 40629	NM_002880.4(RAF1):c.*2T>G	RAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1198874	NM_002880.4(RAF1):c.1947G>C (p.Ter649Tyr)	RAF1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 853114	NM_002880.4(RAF1):c.1947G>A (p.Ter649=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 1497081	NM_002880.4(RAF1):c.1943T>C (p.Phe648Ser)	RAF1 (F567S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 44623	NM_002880.4(RAF1):c.1941C>T (p.Val647=)	MKRN2, RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 181516	NM_002880.4(RAF1):c.1939G>A (p.Val647Ile)	RAF1 (V647I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2032474	NM_002880.4(RAF1):c.1938T>C (p.Pro646=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 411093	NM_002880.4(RAF1):c.1936C>T (p.Pro646Ser)	RAF1 (P646S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1782910	NM_002880.4(RAF1):c.1932G>A (p.Arg644=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 702984	NM_002880.4(RAF1):c.1929G>A (p.Pro643=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 849719	NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu)	RAF1 (P582L +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 229178	NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser)	RAF1 (P643S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2069846	NM_002880.4(RAF1):c.1926C>G (p.Ser642=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1144266	NM_002880.4(RAF1):c.1923G>A (p.Thr641=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 1696596	NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)	RAF1 (T527R +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +1 more	GUncertain significance
Select item 142298	NM_002880.4(RAF1):c.1922C>T (p.Thr641Met)	RAF1 (T641M +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 992259	NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala)	RAF1 (T527A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 928992	NM_002880.4(RAF1):c.1895_1918del (p.Glu632_Thr640delinsAla)	RAF1	Deletion (inframe_indel +1 more)	not specified	GUncertain significance
Select item 1782601	NM_002880.4(RAF1):c.1917G>A (p.Leu639=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 40628	NM_002880.4(RAF1):c.1914G>A (p.Thr638=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 181515	NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)	RAF1 (T638M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1782523	NM_002880.4(RAF1):c.1912A>T (p.Thr638Ser)	RAF1 (T658S +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 928753	NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr)	RAF1 (C523Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1782414	NM_002880.4(RAF1):c.1907C>T (p.Ala636Val)	RAF1 (A522V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1655234	NM_002880.4(RAF1):c.1905T>C (p.Asn635=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 577199	NM_002880.4(RAF1):c.1904A>G (p.Asn635Ser)	RAF1 (N635S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 641642	NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr)	RAF1 (I601T +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +2 more	GUncertain significance
Select item 742213	NM_002880.4(RAF1):c.1899T>C (p.Asp633=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2065031	NM_002880.4(RAF1):c.1898A>G (p.Asp633Gly)	RAF1 (D519G +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 994394	NM_002880.4(RAF1):c.1897G>A (p.Asp633Asn)	RAF1 (D519N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346883	NM_002880.4(RAF1):c.1896G>T (p.Glu632Asp)	RAF1 (E518D +5 more)	Single nucleotide variant (missense variant +1 more)	RAF1-related disorder	GUncertain significance
Select item 2564931	NM_002880.4(RAF1):c.1896G>C (p.Glu632Asp)	RAF1 (E551D +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2046784	NM_002880.4(RAF1):c.1896G>A (p.Glu632=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1976440	NM_002880.4(RAF1):c.1894G>A (p.Glu632Lys)	RAF1 (E599K +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2892459	NM_002880.4(RAF1):c.1891A>G (p.Thr631Ala)	RAF1 (T631A +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2302043	NM_002880.4(RAF1):c.1889A>G (p.His630Arg)	RAF1 (H569R +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1474502	NM_002880.4(RAF1):c.1886C>G (p.Ala629Gly)	RAF1 (A515G +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 864448	NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser)	RAF1 (A515S +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1878904	NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)	RAF1 (R513P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 181514	NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln)	RAF1 (R627Q +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +2 more	GUncertain significance
Select item 181513	NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp)	RAF1 (R627W +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 2506811	NM_002880.4(RAF1):c.1876_1877insTC (p.His626fs)	RAF1 (H512fs +5 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 520554	NM_002880.4(RAF1):c.1877A>G (p.His626Arg)	RAF1 (H626R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1987344	NM_002880.4(RAF1):c.1875G>A (p.Leu625=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 3251319	NM_002880.4(RAF1):c.1864_1872del (p.Glu622_Ser624del)	RAF1	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 391813	NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)	RAF1 (S624C +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 3018277	NM_002880.4(RAF1):c.1869A>G (p.Pro623=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 393135	NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser)	RAF1 (P623S +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 2 +4 more	GUncertain significance
Select item 1781558	NM_002880.4(RAF1):c.1864G>A (p.Glu622Lys)	RAF1 (E642K +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2815921	NM_002880.4(RAF1):c.1863C>G (p.Ser621=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1781537	NM_002880.4(RAF1):c.1863C>A (p.Ser621=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 767462	NM_002880.4(RAF1):c.1863C>T (p.Ser621=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 949432	NM_002880.4(RAF1):c.1858G>A (p.Ala620Thr)	RAF1 (A587T +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 518752	NM_002880.4(RAF1):c.1857C>T (p.Ser619=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +1 more	GLikely benign
Select item 2132528	NM_002880.4(RAF1):c.1854G>C (p.Arg618=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 1781374	NM_002880.4(RAF1):c.1853G>A (p.Arg618Gln)	RAF1 (R557Q +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1781352	NM_002880.4(RAF1):c.1852C>A (p.Arg618=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1413764	NM_002880.4(RAF1):c.1852C>T (p.Arg618Trp)	RAF1 (R537W +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2585519	NM_002880.4(RAF1):c.1850A>C (p.Asn617Thr)	RAF1 (N556T +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5	GUncertain significance
Select item 1781313	NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)	RAF1 (N536I +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity

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