ClinVar for Gene (Select 84930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123893	NM_001172303.3(MASTL):c.969G>T (p.Trp323Cys)	MASTL (W162C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123892	NM_001172303.3(MASTL):c.476C>T (p.Pro159Leu)	MASTL (P159L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123891	NM_001172303.3(MASTL):c.316G>T (p.Val106Phe)	MASTL (V106F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123890	NM_001172303.3(MASTL):c.2165C>A (p.Thr722Asn)	MASTL (T722N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123889	NM_001172303.3(MASTL):c.2042T>C (p.Met681Thr)	MASTL (M681T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123888	NM_001172303.3(MASTL):c.1870G>A (p.Glu624Lys)	MASTL (E624K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123887	NM_001172303.3(MASTL):c.1742G>A (p.Ser581Asn)	MASTL (S420N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123885	NM_001172303.3(MASTL):c.1067A>C (p.Glu356Ala)	MASTL (E356A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3061512	NM_001172303.3(MASTL):c.495T>C (p.Ser165=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	MASTL-related condition	GLikely benign
Select item 3058160	NM_001172303.3(MASTL):c.1431T>C (p.Tyr477=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	MASTL-related condition	GLikely benign
Select item 3051460	NM_001172303.3(MASTL):c.1038G>A (p.Lys346=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	MASTL-related condition	GLikely benign
Select item 3040054	NM_001172303.3(MASTL):c.1186G>C (p.Glu396Gln)	MASTL (E235Q +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition	GLikely benign
Select item 3037409	NM_001172303.3(MASTL):c.1935G>A (p.Thr645=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	MASTL-related condition	GLikely benign
Select item 3036305	NM_001172303.3(MASTL):c.2217A>G (p.Leu739=)	MASTL	Single nucleotide variant (synonymous variant)	MASTL-related condition	GLikely benign
Select item 3032533	NM_001172303.3(MASTL):c.294T>C (p.Tyr98=)	MASTL	Single nucleotide variant (synonymous variant +2 more)	MASTL-related condition	GLikely benign
Select item 2640376	NM_001172303.3(MASTL):c.277A>G (p.Ile93Val)	MASTL (I93V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2635535	NM_001172303.3(MASTL):c.1292G>C (p.Gly431Ala)	MASTL (G270A +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition	GUncertain significance
Select item 2634283	NM_001172303.3(MASTL):c.1414G>A (p.Glu472Lys)	MASTL (E311K +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition	GUncertain significance
Select item 2633960	NM_001172303.3(MASTL):c.1423A>G (p.Asn475Asp)	MASTL (N314D +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition	GUncertain significance
Select item 2630321	NM_001172303.3(MASTL):c.2629T>C (p.Phe877Leu)	ACBD5, MASTL (F716L +6 more)	Single nucleotide variant (missense variant +2 more)	MASTL-related condition	GUncertain significance
Select item 2629970	NM_001172303.3(MASTL):c.109A>C (p.Ile37Leu)	MASTL (I37L)	Single nucleotide variant (missense variant +2 more)	MASTL-related condition	GUncertain significance
Select item 2610201	NM_001172303.3(MASTL):c.826G>T (p.Ala276Ser)	MASTL (A276S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606708	NM_001172303.3(MASTL):c.1189G>T (p.Val397Phe)	MASTL (V236F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603407	NM_001172303.3(MASTL):c.1826T>C (p.Ile609Thr)	MASTL (I448T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2599973	NM_001172303.3(MASTL):c.32C>T (p.Pro11Leu)	MASTL (P11L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2548261	NM_001172303.3(MASTL):c.2025G>A (p.Met675Ile)	MASTL (M675I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529665	NM_001172303.3(MASTL):c.338T>C (p.Leu113Pro)	MASTL (L113P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521969	NM_001172303.3(MASTL):c.2087C>T (p.Thr696Ile)	MASTL (T535I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493818	NM_001172303.3(MASTL):c.1597A>G (p.Met533Val)	MASTL (M533V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480097	NM_001172303.3(MASTL):c.2008C>G (p.Pro670Ala)	MASTL (P509A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470879	NM_001172303.3(MASTL):c.834C>G (p.Asn278Lys)	MASTL (N117K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466839	NM_001172303.3(MASTL):c.1508G>C (p.Cys503Ser)	MASTL (C342S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466588	NM_001172303.3(MASTL):c.1406A>G (p.Lys469Arg)	MASTL (K469R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	ABI1, ACBD5 +9 more	Duplication	not provided	GUncertain significance
Select item 2392285	NM_001172303.3(MASTL):c.1070C>T (p.Thr357Met)	MASTL (T357M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387345	NM_001172303.3(MASTL):c.1894A>G (p.Asn632Asp)	MASTL (N471D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384700	NM_001172303.3(MASTL):c.2290C>G (p.Leu764Val)	MASTL (L768V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384622	NM_001172303.3(MASTL):c.1528G>A (p.Val510Ile)	MASTL (V349I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378270	NM_001172303.3(MASTL):c.2336A>G (p.Asn779Ser)	MASTL (N778S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368500	NM_001172303.3(MASTL):c.2351A>C (p.Gln784Pro)	MASTL (Q623P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313898	NM_001172303.3(MASTL):c.434A>T (p.Asp145Val)	MASTL (D145V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304670	NM_001172303.3(MASTL):c.2618C>A (p.Thr873Asn)	ACBD5, MASTL (T877N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289556	NM_001172303.3(MASTL):c.617G>T (p.Arg206Ile)	MASTL (R206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265493	NM_001172303.3(MASTL):c.406T>C (p.Tyr136His)	MASTL (Y136H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253490	NM_001172303.3(MASTL):c.1376T>A (p.Ile459Lys)	MASTL (I459K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225788	NM_001172303.3(MASTL):c.1742G>T (p.Ser581Ile)	MASTL (S420I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213886	NM_001172303.3(MASTL):c.2093C>T (p.Thr698Ile)	MASTL (T537I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206208	NM_001172303.3(MASTL):c.1118A>G (p.His373Arg)	MASTL (H373R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807877	GRCh37/hg19 10p12.1(chr10:27065576-27549923)x3	ABI1, ACBD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1803273	NM_001172303.3(MASTL):c.2519G>A (p.Trp840Ter)	ACBD5, MASTL (W679* +6 more)	Single nucleotide variant (nonsense +2 more)	Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	GUncertain significance
Select item 1802777	NM_001172303.3(MASTL):c.661-2A>G	MASTL	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1683730	NM_001172303.3(MASTL):c.2033T>C (p.Leu678Ser)	MASTL (L517S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant thrombocytopenia	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1340583	GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1	ACBD5, ANKRD26 +9 more	Copy number loss	not provided	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1287047	NM_001172303.3(MASTL):c.2381-197C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285964	NM_001172303.3(MASTL):c.2124+290A>G	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284205	NM_001172303.3(MASTL):c.985-194C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275356	NM_001172303.3(MASTL):c.186+222C>A	LOC130003556, MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268165	NM_001172303.3(MASTL):c.186+165A>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263702	NM_001172303.3(MASTL):c.2267-272C>G	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263152	NM_001172303.3(MASTL):c.187-273T>C	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260734	NM_001172303.3(MASTL):c.2267-204G>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254885	NM_001172303.3(MASTL):c.2267-222C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251707	NC_000010.11:g.27154694C>G	MASTL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1244703	NM_001172303.3(MASTL):c.2125-94T>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235648	NM_001172303.3(MASTL):c.2483-298C>T	ACBD5, MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231784	NM_001172303.3(MASTL):c.324+150G>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224576	NM_001172303.3(MASTL):c.2267-148G>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222527	NM_001172303.3(MASTL):c.985-305A>C	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980365	GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1	MASTL, MKX +7 more	Copy number loss	not provided	GUncertain significance
Select item 880271	NM_001172303.3(MASTL):c.2120A>T (p.His707Leu)	MASTL (H546L +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition +1 more	GBenign/Likely benign
Select item 880270	NM_001172303.3(MASTL):c.2060A>G (p.Tyr687Cys)	MASTL (Y687C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 880269	NM_001172303.3(MASTL):c.1997A>G (p.Asn666Ser)	MASTL (N505S +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 880268	NM_001172303.3(MASTL):c.1930A>C (p.Lys644Gln)	MASTL (K644Q +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition +1 more	GBenign
Select item 880267	NM_001172303.3(MASTL):c.1876C>G (p.Pro626Ala)	MASTL (P465A +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GLikely benign
Select item 880216	NM_001172303.3(MASTL):c.478G>A (p.Asp160Asn)	MASTL (D160N)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 879054	NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile)	ACBD5, MASTL (V610I +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition +2 more	GBenign
Select item 879053	NM_001172303.3(MASTL):c.1816G>T (p.Asp606Tyr)	MASTL (D445Y +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GBenign
Select item 879052	NM_001172303.3(MASTL):c.1566A>G (p.Lys522=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 878999	NM_001172303.3(MASTL):c.110T>C (p.Ile37Thr)	MASTL (I37T)	Single nucleotide variant (missense variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 878516	NM_001172303.3(MASTL):c.*60A>T	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GBenign
Select item 878515	NM_001172303.3(MASTL):c.*51T>A	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia	GLikely benign
Select item 878466	NM_001172303.3(MASTL):c.1556C>T (p.Thr519Ile)	MASTL (T519I +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GLikely benign
Select item 878465	NM_001172303.3(MASTL):c.1488C>T (p.His496=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	Thrombocytopenia	GBenign
Select item 878464	NM_001172303.3(MASTL):c.1210C>T (p.Leu404=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	Thrombocytopenia	GLikely benign
Select item 878463	NM_001172303.3(MASTL):c.1147C>T (p.Arg383Cys)	MASTL (R222C +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GBenign
Select item 878462	NM_001172303.3(MASTL):c.1045G>A (p.Ala349Thr)	MASTL (A188T +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition +1 more	GBenign/Likely benign
Select item 877489	NM_001172303.3(MASTL):c.2521G>A (p.Glu841Lys)	ACBD5, MASTL (E802K +6 more)	Single nucleotide variant (missense variant +2 more)	Thrombocytopenia	GUncertain significance
Select item 877488	NM_001172303.3(MASTL):c.2197G>A (p.Val733Ile)	MASTL (V732I +2 more)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GUncertain significance
Select item 877487	NM_001172303.3(MASTL):c.2148G>A (p.Ser716=)	MASTL	Single nucleotide variant (synonymous variant)	Thrombocytopenia	GUncertain significance
Select item 877444	NM_001172303.3(MASTL):c.1016T>A (p.Met339Lys)	MASTL (M339K +1 more)	Single nucleotide variant (missense variant +1 more)	MASTL-related condition +1 more	GBenign/Likely benign
Select item 877443	NM_001172303.3(MASTL):c.996A>G (p.Glu332=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 877442	NM_001172303.3(MASTL):c.871C>T (p.Leu291Phe)	MASTL (L130F +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GBenign
Select item 877441	NM_001172303.3(MASTL):c.812-8C>T	MASTL	Single nucleotide variant (intron variant)	MASTL-related condition +1 more	GBenign/Likely benign
Select item 877440	NM_001172303.3(MASTL):c.748G>A (p.Val250Ile)	MASTL (V89I +1 more)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia	GUncertain significance
Select item 815325	GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3	MKX, RAB18 +7 more	Copy number gain	not provided	GUncertain significance

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