Related gene-specific medical variations for Gene (Select 5894) - ClinVar - NCBI

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

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360691	NM_002880.4(RAF1):c.1248C>G (p.Asn416Lys)	RAF1 (N302K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360167	NM_002880.4(RAF1):c.1934T>G (p.Leu645Arg)	RAF1 (L531R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359310	NM_002880.4(RAF1):c.1660C>G (p.Arg554Gly)	RAF1 (R440G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338001	NM_002880.4(RAF1):c.784_786dup (p.Asn262_Val263insAsn)	RAF1	Duplication (inframe insertion +1 more)	Noonan syndrome 5	GPathogenic
Select item 3246948	NC_000003.11:g.(?_12626013)_(12633311_?)dup	RAF1	Duplication	RASopathy	GUncertain significance
Select item 3246947	NC_000003.11:g.(?_12626013)_(12660220_?)dup	RAF1	Duplication	RASopathy	GUncertain significance
Select item 2441871	NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)	RAF1 (E203L +5 more)	Indel (missense variant +1 more)	Noonan syndrome 5	GUncertain significance
Select item 2435357	NM_002880.4(RAF1):c.950A>G (p.Glu317Gly)	RAF1 (E203G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 376186	NM_002880.4(RAF1):c.1103G>C (p.Trp368Ser)	RAF1 (W368S +5 more)	Single nucleotide variant (missense variant +1 more)	Melanoma	GLikely pathogenic
Select item 258856	NM_002880.4(RAF1):c.991-43T>C	RAF1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 258855	NM_002880.4(RAF1):c.991-42T>C	RAF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 258853	NM_002880.4(RAF1):c.681-37C>T	RAF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258851	NM_002880.4(RAF1):c.1193+39T>C	RAF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254046	NM_002880.3(RAF1):c.-26-?_1370+?dup	RAF1	Duplication	RASopathy	GUncertain significance
Select item 21341	NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn)	RAF1 (D486N +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome with multiple lentigines	Gnot provided