"GeneDx"[submitter] AND "MAST1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 1704941	NM_014975.3(MAST1):c.262C>T (p.Arg88Trp)	MAST1 (R88W)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GUncertain significance
Select item 3369380	NM_014975.3(MAST1):c.308C>A (p.Thr103Lys)	MAST1 (T103K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367876	NM_014975.3(MAST1):c.519_548del (p.Asn173_Tyr182del)	LOC117125587, MAST1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2429720	NM_014975.3(MAST1):c.545A>G (p.Tyr182Cys)	MAST1, LOC117125587 (Y182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412997	NM_014975.3(MAST1):c.548A>G (p.Lys183Arg)	LOC117125587, MAST1 (K183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236553	NM_014975.3(MAST1):c.600T>C (p.Phe200=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2506697	NM_014975.3(MAST1):c.625G>C (p.Val209Leu)	LOC117125587, MAST1 (V209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375646	NM_014975.3(MAST1):c.688G>T (p.Asp230Tyr)	LOC117125587, MAST1 (D230Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377973	NM_014975.3(MAST1):c.753C>A (p.Asn251Lys)	LOC117125587, MAST1 (N251K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 3254811	NM_014975.3(MAST1):c.837TAT[1] (p.Ile282del)	MAST1 (I282del)	Microsatellite (inframe_deletion)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GPathogenic/Likely pathogenic
Select item 1321494	NM_014975.3(MAST1):c.851G>A (p.Arg284His)	MAST1 (R284H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012926	NM_014975.3(MAST1):c.938G>A (p.Gly313Asp)	MAST1 (G313D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372220	NM_014975.3(MAST1):c.1040G>A (p.Gly347Asp)	MAST1 (G347D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504320	NM_014975.3(MAST1):c.1153T>C (p.Tyr385His)	MAST1 (Y385H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368029	NM_014975.3(MAST1):c.1159G>A (p.Ala387Thr)	MAST1 (A387T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373315	NM_014975.3(MAST1):c.1162G>A (p.Val388Ile)	MAST1 (V388I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375500	NM_014975.3(MAST1):c.1270G>T (p.Asp424Tyr)	MAST1 (D424Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878778	NM_014975.3(MAST1):c.1353G>A (p.Met451Ile)	MAST1 (M451I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370242	NM_014975.3(MAST1):c.1506-2A>C	MAST1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2504714	NM_014975.3(MAST1):c.1535A>G (p.Lys512Arg)	MAST1 (K512R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599361	NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)	MAST1 (G517S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1310626	NM_014975.3(MAST1):c.1676T>C (p.Ile559Thr)	MAST1 (I559T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703370	NM_014975.3(MAST1):c.1804+5G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2575593	NM_014975.3(MAST1):c.1917T>G (p.Phe639Leu)	MAST1 (F639L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577608	NM_014975.3(MAST1):c.1932_1933del (p.His644fs)	MAST1 (H644fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1695598	NM_014975.3(MAST1):c.2003C>T (p.Ser668Leu)	MAST1 (S668L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683993	NM_014975.3(MAST1):c.2003C>A (p.Ser668Ter)	MAST1 (S668*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1311509	NM_014975.3(MAST1):c.2165C>G (p.Ser722Trp)	LOC112543452, MAST1 (S722W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378251	NM_014975.3(MAST1):c.2320A>G (p.Lys774Glu)	LOC112543452, MAST1 (K774E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501405	NM_014975.3(MAST1):c.2368C>T (p.Pro790Ser)	LOC112543452, MAST1 (P790S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722790	NM_014975.3(MAST1):c.2378G>C (p.Gly793Ala)	LOC112543452, MAST1 (G793A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372001	NM_014975.3(MAST1):c.2386C>T (p.Arg796Cys)	LOC112543452, MAST1 (R796C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571696	NM_014975.3(MAST1):c.2424C>G (p.Ser808Arg)	LOC112543452, MAST1 (S808R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313712	NM_014975.3(MAST1):c.2424C>A (p.Ser808Arg)	MAST1, LOC112543452 (S808R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371530	NM_014975.3(MAST1):c.2533del (p.Glu845fs)	MAST1 (E845fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2502498	NM_014975.3(MAST1):c.2762T>C (p.Met921Thr)	MAST1 (M921T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372823	NM_014975.3(MAST1):c.2947G>A (p.Ala983Thr)	MAST1 (A983T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700824	NM_014975.3(MAST1):c.2989C>T (p.His997Tyr)	MAST1 (H997Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809907	NM_014975.3(MAST1):c.3003G>A (p.Trp1001Ter)	MAST1 (W1001*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2420670	NM_014975.3(MAST1):c.3263+5G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2501850	NM_014975.3(MAST1):c.3313_3314delinsAA (p.Leu1105Lys)	MAST1 (L1105K)	Indel (missense variant)	not provided	GUncertain significance
Select item 3363376	NM_014975.3(MAST1):c.3428C>T (p.Ser1143Phe)	MAST1 (S1143F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704662	NM_014975.3(MAST1):c.3464A>G (p.Gln1155Arg)	MAST1 (Q1155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368932	NM_014975.3(MAST1):c.3584G>T (p.Arg1195Leu)	MAST1 (R1195L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506638	NM_014975.3(MAST1):c.3707C>G (p.Pro1236Arg)	MAST1 (P1236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497876	NM_014975.3(MAST1):c.3748C>G (p.Pro1250Ala)	MAST1 (P1250A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312970	NM_014975.3(MAST1):c.3802G>T (p.Glu1268Ter)	MAST1 (E1268*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2413084	NM_014975.3(MAST1):c.3862G>A (p.Glu1288Lys)	MAST1 (E1288K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804180	NM_014975.3(MAST1):c.3947C>A (p.Pro1316Gln)	MAST1 (P1316Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704842	NM_014975.3(MAST1):c.4109C>T (p.Thr1370Ile)	MAST1 (T1370I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579761	NM_014975.3(MAST1):c.4323del (p.Arg1442fs)	MAST1 (R1442fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2578306	NM_014975.3(MAST1):c.4447G>C (p.Glu1483Gln)	MAST1 (E1483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361163	NM_014975.3(MAST1):c.1561A>G (p.Met521Val)	MAST1 (M521V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 57