RASAL1[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 743526	NM_001301202.2(RASAL1):c.2393C>T (p.Ala798Val)	RASAL1 (A769V +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2381390	NM_001301202.2(RASAL1):c.2353C>T (p.Arg785Cys)	RASAL1 (R756C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220271	NM_001301202.2(RASAL1):c.2323C>T (p.Arg775Cys)	RASAL1 (R654C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276253	NM_001301202.2(RASAL1):c.2288C>T (p.Pro763Leu)	RASAL1 (P642L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714572	NM_001301202.2(RASAL1):c.2225+7G>A	RASAL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3151721	NM_001301202.2(RASAL1):c.2213G>A (p.Arg738Gln)	RASAL1 (R516Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528931	NM_001301202.2(RASAL1):c.2212C>T (p.Arg738Trp)	RASAL1 (R516W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328379	NM_001301202.2(RASAL1):c.2212C>G (p.Arg738Gly)	RASAL1 (R738G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320683	NM_001301202.2(RASAL1):c.2204T>C (p.Leu735Pro)	RASAL1 (L672P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151720	NM_001301202.2(RASAL1):c.2123C>T (p.Thr708Ile)	RASAL1 (T645I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485351	NM_001301202.2(RASAL1):c.2110G>C (p.Gly704Arg)	RASAL1 (G583R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356456	NM_001301202.2(RASAL1):c.2107G>A (p.Ala703Thr)	RASAL1 (A704T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714323	NM_001301202.2(RASAL1):c.2106C>T (p.Ala702=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354955	NM_001301202.2(RASAL1):c.2090A>G (p.Gln697Arg)	RASAL1 (Q475R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525346	NM_001301202.2(RASAL1):c.2069C>T (p.Ala690Val)	RASAL1 (A662V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263104	NM_001301202.2(RASAL1):c.2045G>C (p.Cys682Ser)	RASAL1 (C619S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331032	NM_001301202.2(RASAL1):c.2002T>G (p.Leu668Val)	RASAL1 (L446V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701212	NM_001301202.2(RASAL1):c.1912dup (p.Gln638fs)	RASAL1 (Q416fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2253859	NM_001301202.2(RASAL1):c.1901C>T (p.Pro634Leu)	RASAL1 (P634L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151717	NM_001301202.2(RASAL1):c.1877T>C (p.Val626Ala)	RASAL1 (V404A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365049	NM_001301202.2(RASAL1):c.1810T>A (p.Ser604Thr)	RASAL1 (S541T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218644	NM_001301202.2(RASAL1):c.1807T>C (p.Phe603Leu)	RASAL1 (F602L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2408518	NM_001301202.2(RASAL1):c.1792G>A (p.Gly598Arg)	RASAL1 (G477R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687860	NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)	RASAL1 (R370H +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer	GLikely benign
Select item 2550037	NM_001301202.2(RASAL1):c.1744G>A (p.Gly582Ser)	RASAL1 (G582S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407280	NM_001301202.2(RASAL1):c.1738C>A (p.Pro580Thr)	RASAL1 (P358T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643348	NM_001301202.2(RASAL1):c.1650G>A (p.Gly550=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542023	NM_001301202.2(RASAL1):c.1631G>C (p.Arg544Pro)	RASAL1 (R322P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516345	NM_001301202.2(RASAL1):c.1631G>A (p.Arg544Gln)	RASAL1 (R423Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151716	NM_001301202.2(RASAL1):c.1609C>T (p.Arg537Cys)	RASAL1 (R315C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749719	NM_001301202.2(RASAL1):c.1495C>T (p.Leu499=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2621239	NM_001301202.2(RASAL1):c.1480C>G (p.Gln494Glu)	RASAL1 (Q494E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305462	NM_001301202.2(RASAL1):c.1470C>G (p.His490Gln)	RASAL1 (H268Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151715	NM_001301202.2(RASAL1):c.1459C>T (p.Arg487Trp)	RASAL1 (R366W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151714	NM_001301202.2(RASAL1):c.1447C>G (p.Leu483Val)	RASAL1 (L483V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738439	NM_001301202.2(RASAL1):c.1387C>T (p.Leu463=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363868	NM_001301202.2(RASAL1):c.1367A>C (p.Glu456Ala)	RASAL1 (E335A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267779	NM_001301202.2(RASAL1):c.1357C>G (p.Pro453Ala)	RASAL1 (P389A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806948	NM_001301202.2(RASAL1):c.1356C>T (p.Phe452=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210107	NM_001301202.2(RASAL1):c.1306G>A (p.Ala436Thr)	RASAL1 (A436T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238157	NM_001301202.2(RASAL1):c.1301C>T (p.Pro434Leu)	RASAL1 (P212L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235480	NM_001301202.2(RASAL1):c.1294C>G (p.Arg432Gly)	RASAL1 (R432G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712123	NM_001301202.2(RASAL1):c.1092C>T (p.His364=)	RASAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3151713	NM_001301202.2(RASAL1):c.1052T>C (p.Met351Thr)	RASAL1 (M129T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552991	NM_001301202.2(RASAL1):c.998G>A (p.Arg333Gln)	RASAL1 (R333Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151730	NM_001301202.2(RASAL1):c.985C>T (p.Arg329Cys)	RASAL1 (R208C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343896	NM_001301202.2(RASAL1):c.983G>A (p.Arg328Gln)	RASAL1 (R207Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686253	NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp)	RASAL1 (R106W +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3151729	NM_001301202.2(RASAL1):c.961C>A (p.Arg321Ser)	RASAL1 (R257S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273071	NM_001301202.2(RASAL1):c.947G>A (p.Arg316Gln)	RASAL1 (R195Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556977	NM_001301202.2(RASAL1):c.944G>T (p.Gly315Val)	RASAL1 (G251V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296729	NM_001301202.2(RASAL1):c.934C>G (p.Leu312Val)	RASAL1 (L312V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232763	NM_001301202.2(RASAL1):c.934C>A (p.Leu312Ile)	RASAL1 (L248I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324554	NM_001301202.2(RASAL1):c.913C>T (p.Leu305Phe)	RASAL1 (L241F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319497	NM_001301202.2(RASAL1):c.871G>A (p.Ala291Thr)	RASAL1 (A227T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293570	NM_001301202.2(RASAL1):c.733G>C (p.Gly245Arg)	RASAL1 (G245R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342557	NM_001301202.2(RASAL1):c.721G>A (p.Glu241Lys)	RASAL1 (E120K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284552	NM_001301202.2(RASAL1):c.718G>C (p.Glu240Gln)	RASAL1 (E119Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 743527	NM_001301202.2(RASAL1):c.717C>T (p.Ala239=)	RASAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2356952	NM_001301202.2(RASAL1):c.694C>T (p.Arg232Cys)	RASAL1 (R111C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151728	NM_001301202.2(RASAL1):c.671A>G (p.Gln224Arg)	RASAL1 (Q160R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151726	NM_001301202.2(RASAL1):c.560G>A (p.Arg187Gln)	RASAL1 (R187Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643349	NM_001301202.2(RASAL1):c.534G>A (p.Pro178=)	RASAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2546512	NM_001301202.2(RASAL1):c.521A>G (p.Lys174Arg)	RASAL1 (K110R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357759	NM_001301202.2(RASAL1):c.506C>A (p.Thr169Asn)	RASAL1 (T169N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151725	NM_001301202.2(RASAL1):c.504G>T (p.Glu168Asp)	RASAL1 (E168D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151724	NM_001301202.2(RASAL1):c.487G>A (p.Gly163Ser)	RASAL1 (G163S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151723	NM_001301202.2(RASAL1):c.476G>A (p.Arg159His)	RASAL1 (R159H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304140	NM_001301202.2(RASAL1):c.407G>A (p.Arg136His)	RASAL1 (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738440	NM_001301202.2(RASAL1):c.342A>G (p.Ala114=)	RASAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788656	NM_001301202.2(RASAL1):c.278C>T (p.Ala93Val)	RASAL1 (A93V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3151722	NM_001301202.2(RASAL1):c.247A>G (p.Ile83Val)	RASAL1 (I83V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 778661	NM_001301202.2(RASAL1):c.240C>T (p.His80=)	RASAL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2333466	NM_001301202.2(RASAL1):c.214G>T (p.Val72Leu)	RASAL1 (V72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151718	NM_001301202.2(RASAL1):c.200A>G (p.Gln67Arg)	RASAL1 (Q67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548056	NM_001301202.2(RASAL1):c.115G>A (p.Val39Met)	RASAL1 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151727	NM_001301202.2(RASAL1):c.60G>C (p.Lys20Asn)	RASAL1 (K20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404265	NM_001301202.2(RASAL1):c.47C>G (p.Ala16Gly)	RASAL1 (A16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801394	NM_001301202.2(RASAL1):c.-64C>T	RASAL1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 86