"GeneDx"[submitter] AND "RAF1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 1022960	NM_002880.4(RAF1):c.1850A>G (p.Asn617Ser)	RAF1 (N503S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 561771	NM_002880.4(RAF1):c.1842G>C (p.Pro614=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 13960	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1 (L613V +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40627	NM_002880.4(RAF1):c.1830A>G (p.Gln610=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 389352	NM_002880.4(RAF1):c.1824G>A (p.Leu608=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 699817	NM_002880.4(RAF1):c.1821G>A (p.Glu607=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GBenign/Likely benign
Select item 181512	NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)	RAF1 (S605F +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +6 more	GUncertain significance
Select item 515165	NM_002880.4(RAF1):c.1803+6G>C	RAF1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2663107	NM_002880.4(RAF1):c.1777_1782del (p.Lys593_Glu594del)	RAF1	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 40626	NM_002880.4(RAF1):c.1755A>G (p.Val585=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1699515	NM_002880.4(RAF1):c.1742T>C (p.Met581Thr)	RAF1 (M467T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 177842	NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	RAF1 (Y574C +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 229176	NM_002880.4(RAF1):c.1708C>G (p.Leu570Val)	RAF1 (L570V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 698911	NM_002880.4(RAF1):c.1704A>G (p.Pro568=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GLikely benign
Select item 561899	NM_002880.4(RAF1):c.1698C>T (p.Ala566=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3338710	NM_002880.4(RAF1):c.1697C>T (p.Ala566Val)	RAF1 (A452V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516880	NM_002880.4(RAF1):c.1689A>G (p.Arg563=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 179378	NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln)	RAF1 (R563Q +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance
Select item 561970	NM_002880.4(RAF1):c.1685G>T (p.Gly562Val)	RAF1 (G562V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 392315	NM_002880.4(RAF1):c.1678A>C (p.Met560Leu)	RAF1 (M560L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 40625	NM_002880.4(RAF1):c.1669-13T>C	RAF1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 511145	NM_002880.4(RAF1):c.1669-14T>C	RAF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1248806	NM_002880.4(RAF1):c.1669-23C>T	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297968	NM_002880.4(RAF1):c.1669-31C>A	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40624	NM_002880.4(RAF1):c.1669-36C>T	RAF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1261129	NM_002880.4(RAF1):c.1668+30A>G	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138881	NM_002880.4(RAF1):c.1668+19G>T	RAF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 517088	NM_002880.4(RAF1):c.1668+18C>T	RAF1	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 380701	NM_002880.4(RAF1):c.1668+14G>C	RAF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 227046	NM_002880.4(RAF1):c.1668+10_1668+11del	RAF1	Microsatellite (intron variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 285438	NM_002880.4(RAF1):c.1668+4A>G	RAF1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 503546	NM_002880.4(RAF1):c.1663G>C (p.Asp555His)	RAF1 (D555H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1777494	NM_002880.4(RAF1):c.1661G>A (p.Arg554Gln)	RAF1 (R440Q +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 504078	NM_002880.4(RAF1):c.1654AAC[1] (p.Asn553del)	RAF1 (N553del +5 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 40622	NM_002880.4(RAF1):c.1655A>G (p.Asn552Ser)	RAF1 (N552S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance
Select item 513810	NM_002880.4(RAF1):c.1629G>T (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 448927	NM_002880.4(RAF1):c.1629G>A (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40621	NM_002880.4(RAF1):c.1629G>C (p.Thr543=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 181518	NM_002880.4(RAF1):c.1613T>A (p.Leu538Ter)	RAF1 (L538* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 856146	NM_002880.4(RAF1):c.1609G>A (p.Val537Ile)	RAF1 (V537I +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 40620	NM_002880.4(RAF1):c.1587G>A (p.Ser529=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 452826	NM_002880.4(RAF1):c.1556T>C (p.Met519Thr)	RAF1 (M519T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1404355	NM_002880.4(RAF1):c.1553G>A (p.Arg518Gln)	RAF1 (R485Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 181505	NM_002880.4(RAF1):c.1537-11_1537-3dup	RAF1	Duplication (intron variant)	not provided	GLikely benign
Select item 378466	NM_002880.4(RAF1):c.1537-11G>A	RAF1	Single nucleotide variant (intron variant)	RASopathy +2 more	GBenign
Select item 1260217	NM_002880.4(RAF1):c.1537-40T>C	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227811	NM_002880.4(RAF1):c.1536+76dup	RAF1	Duplication (intron variant)	not provided	GBenign
Select item 1273130	NM_002880.4(RAF1):c.1536+14C>G	RAF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 280925	NM_002880.4(RAF1):c.1535T>C (p.Met512Thr)	RAF1 (M512T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 21342	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1 (T491I +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 13959	NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)	RAF1 (T491R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 546285	NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)	RAF1 (L489F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 40618	NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	RAF1 (D486G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1309786	NM_002880.4(RAF1):c.1448A>T (p.Lys483Ile)	RAF1 (K369I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 239406	NM_002880.4(RAF1):c.1431T>C (p.His477=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +2 more	GLikely benign
Select item 40617	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1 (F475L +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +4 more	GPathogenic/Likely pathogenic
Select item 981598	NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)	RAF1 (N359S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 561633	NM_002880.4(RAF1):c.1418-241G>A	RAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561626	NM_002880.4(RAF1):c.1418-242C>T	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561371	NM_002880.4(RAF1):c.1417+170C>G	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302792	NM_002880.4(RAF1):c.1417+40T>C	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280164	NM_002880.4(RAF1):c.1396C>T (p.His466Tyr)	RAF1 (H466Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246825	NM_002880.4(RAF1):c.1371-45C>T	RAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264962	NM_002880.4(RAF1):c.1371-217_1371-216dup	RAF1	Duplication (intron variant)	not provided	GBenign
Select item 1263171	NM_002880.4(RAF1):c.1371-217_1371-209dup	RAF1	Duplication (intron variant)	not provided	GBenign
Select item 1224244	NM_002880.4(RAF1):c.1371-217_1371-210dup	RAF1	Duplication (intron variant)	not provided	GBenign
Select item 1214131	NM_002880.4(RAF1):c.1371-217_1371-211dup	RAF1	Duplication (intron variant)	not provided	GLikely benign
Select item 1266876	NM_002880.4(RAF1):c.1371-203_1371-201del	RAF1	Deletion (intron variant)	not provided	GBenign
Select item 1180941	NM_002880.4(RAF1):c.1371-218_1371-217insCAAAAAAAAAAA	RAF1	Insertion (intron variant)	not provided	GLikely benign
Select item 1181767	NM_002880.4(RAF1):c.1371-295G>A	RAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372553	NM_002880.4(RAF1):c.1355C>T (p.Thr452Met)	RAF1 (T452M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 280433	NM_002880.4(RAF1):c.1349G>A (p.Arg450Gln)	RAF1 (R450Q +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 430397	NM_002880.4(RAF1):c.1323G>T (p.Gln441His)	RAF1 (Q441H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 44619	NM_002880.4(RAF1):c.1314C>T (p.Thr438=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 561972	NM_002880.4(RAF1):c.1297C>G (p.Leu433Val)	RAF1 (L433V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 40616	NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	RAF1 (S427G +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 379396	NM_002880.4(RAF1):c.1272C>T (p.Cys424=)	RAF1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 654777	NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)	RAF1 (N335S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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