"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAST1"[ge - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048050	NM_014975.3(MAST1):c.-7C>A	LOC130063671, MAST1	Single nucleotide variant (5 prime UTR variant)	MAST1-related disorder	GBenign
Select item 2037531	NM_014975.3(MAST1):c.279G>A (p.Ser93=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2043627	NM_014975.3(MAST1):c.489-6C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2711631	NM_014975.3(MAST1):c.565-10C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	MAST1-related disorder +1 more	GLikely benign
Select item 1977515	NM_014975.3(MAST1):c.789T>C (p.Ser263=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631735	NM_014975.3(MAST1):c.1039G>A (p.Gly347Ser)	MAST1 (G347S)	Single nucleotide variant (missense variant)	MAST1-related disorder	GUncertain significance
Select item 3049564	NM_014975.3(MAST1):c.1107G>A (p.Pro369=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder	GLikely benign
Select item 3061096	NM_014975.3(MAST1):c.1206G>T (p.Met402Ile)	MAST1 (M402I)	Single nucleotide variant (missense variant)	MAST1-related disorder	GUncertain significance
Select item 2059471	NM_014975.3(MAST1):c.1224G>A (p.Gln408=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3054418	NM_014975.3(MAST1):c.1398T>C (p.Ile466=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder	GLikely benign
Select item 773773	NM_014975.3(MAST1):c.1530C>T (p.His510=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder +2 more	GBenign/Likely benign
Select item 599361	NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)	MAST1 (G517S)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +2 more	GPathogenic
Select item 2168952	NM_014975.3(MAST1):c.1569C>T (p.Leu523=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1690768	NM_014975.3(MAST1):c.1906+8C>T	MAST1	Single nucleotide variant (intron variant)	See cases +2 more	GBenign/Likely benign
Select item 2126054	NM_014975.3(MAST1):c.2331C>G (p.Ser777=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2637170	NM_014975.3(MAST1):c.2380G>A (p.Ala794Thr)	LOC112543452, MAST1 (A794T)	Single nucleotide variant (missense variant)	MAST1-related disorder	GUncertain significance
Select item 2065133	NM_014975.3(MAST1):c.2448G>A (p.Glu816=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2169484	NM_014975.3(MAST1):c.2507G>T (p.Arg836Leu)	LOC112543452, MAST1 (R836L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3036574	NM_014975.3(MAST1):c.2544C>T (p.Ser848=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder	GLikely benign
Select item 2054282	NM_014975.3(MAST1):c.2661G>A (p.Ala887=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder +1 more	GBenign
Select item 2043952	NM_014975.3(MAST1):c.2919G>A (p.Ser973=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2050496	NM_014975.3(MAST1):c.2958C>T (p.Val986=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2637251	NM_014975.3(MAST1):c.2972C>T (p.Thr991Met)	MAST1 (T991M)	Single nucleotide variant (missense variant)	MAST1-related disorder	GUncertain significance
Select item 2042162	NM_014975.3(MAST1):c.3003+3G>A	MAST1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2062763	NM_014975.3(MAST1):c.3142G>T (p.Ala1048Ser)	MAST1 (A1048S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3043896	NM_014975.3(MAST1):c.3263+8C>T	MAST1	Single nucleotide variant (intron variant)	MAST1-related disorder	GLikely benign
Select item 1694889	NM_014975.3(MAST1):c.3366T>C (p.Asp1122=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2169014	NM_014975.3(MAST1):c.3715C>T (p.Leu1239=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2172892	NM_014975.3(MAST1):c.4031C>A (p.Pro1344Gln)	MAST1 (P1344Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2076489	NM_014975.3(MAST1):c.4035G>A (p.Leu1345=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634145	NM_014975.3(MAST1):c.4067C>T (p.Ser1356Leu)	MAST1 (S1356L)	Single nucleotide variant (missense variant)	MAST1-related disorder	GUncertain significance
Select item 2052248	NM_014975.3(MAST1):c.4122G>A (p.Ala1374=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3054819	NM_014975.3(MAST1):c.4176G>A (p.Gln1392=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder	GLikely benign
Select item 2142502	NM_014975.3(MAST1):c.4176G>C (p.Gln1392His)	MAST1 (Q1392H)	Single nucleotide variant (missense variant)	MAST1-related disorder +1 more	GUncertain significance
Select item 2149695	NM_014975.3(MAST1):c.4347G>T (p.Val1449=)	MAST1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2067318	NM_014975.3(MAST1):c.4413C>T (p.Pro1471=)	MAST1	Single nucleotide variant (synonymous variant)	MAST1-related disorder +1 more	GBenign/Likely benign

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Items: 36