RASAL1[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 3312860	NM_001301202.2(RASAL1):c.2036T>C (p.Leu679Pro)	RASAL1 (L616P +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 3312864	NM_001301202.2(RASAL1):c.1952C>T (p.Thr651Ile)	RASAL1 (T530I +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 3312865	NM_001301202.2(RASAL1):c.1726C>T (p.Arg576Cys)	RASAL1 (R455C +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 3312862	NM_001301202.2(RASAL1):c.1223G>T (p.Arg408Leu)	RASAL1 (R287L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312863	NM_001301202.2(RASAL1):c.1174C>T (p.Arg392Cys)	RASAL1 (R170C +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	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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: 91