Related gene-specific medical variations for Gene (Select 22983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3377973	NM_014975.3(MAST1):c.753C>A (p.Asn251Lys)	LOC117125587, MAST1 (N251K)	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 3372001	NM_014975.3(MAST1):c.2386C>T (p.Arg796Cys)	LOC112543452, MAST1 (R796C)	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 3361163	NM_014975.3(MAST1):c.1561A>G (p.Met521Val)	MAST1 (M521V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257181	NM_014975.3(MAST1):c.2501A>C (p.Asp834Ala)	LOC112543452, MAST1 (D834A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3069090	NM_014975.3(MAST1):c.2509G>A (p.Ala837Thr)	LOC112543452, MAST1 (A837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3020840	NM_014975.3(MAST1):c.2427C>T (p.Ala809=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973514	NM_014975.3(MAST1):c.15C>G (p.Leu5=)	LOC130063671, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912368	NM_014975.3(MAST1):c.2160G>A (p.Gln720=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911729	NM_014975.3(MAST1):c.2319C>T (p.Ile773=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2900575	NM_014975.3(MAST1):c.2307C>A (p.Gly769=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896313	NM_014975.3(MAST1):c.2318+9G>C	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877415	NM_014975.3(MAST1):c.489-17G>A	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870972	NM_014975.3(MAST1):c.2457G>A (p.Leu819=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869750	NM_014975.3(MAST1):c.759G>A (p.Glu253=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858309	NM_014975.3(MAST1):c.2385C>T (p.Arg795=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849871	NM_014975.3(MAST1):c.644G>A (p.Gly215Asp)	LOC117125587, MAST1 (G215D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827940	NM_014975.3(MAST1):c.2210A>C (p.Lys737Thr)	LOC112543452, MAST1 (K737T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808387	NM_014975.3(MAST1):c.18G>A (p.Trp6Ter)	LOC130063671, MAST1 (W6*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2808337	NM_014975.3(MAST1):c.11C>T (p.Ser4Phe)	LOC130063671, MAST1 (S4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789074	NM_014975.3(MAST1):c.2306G>A (p.Gly769Asp)	LOC112543452, MAST1 (G769D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2773016	NM_014975.3(MAST1):c.565-16_565-6del	LOC117125587, MAST1	Deletion (intron variant)	not provided	GLikely benign
Select item 2714170	NM_014975.3(MAST1):c.520G>C (p.Glu174Gln)	LOC117125587, MAST1 (E174Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711662	NM_014975.3(MAST1):c.2319-7C>T	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711631	NM_014975.3(MAST1):c.565-10C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699787	NM_014975.3(MAST1):c.732C>T (p.Tyr244=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689404	NM_014975.3(MAST1):c.2316G>T (p.Glu772Asp)	LOC112543452, MAST1 (E772D)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2649347	NM_014975.3(MAST1):c.587A>G (p.Lys196Arg)	LOC117125587, MAST1 (K196R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2582570	NM_014975.3(MAST1):c.377C>A (p.Thr126Lys)	MAST1 (T126K)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GLikely pathogenic
Select item 2580895	NM_014975.3(MAST1):c.3530C>T (p.Pro1177Leu)	MAST1 (P1177L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2577109	NM_014975.3(MAST1):c.692G>A (p.Cys231Tyr)	LOC117125587, MAST1 (C231Y)	Single nucleotide variant (missense variant)	not specified	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 2528399	NM_014975.3(MAST1):c.2507G>A (p.Arg836Gln)	LOC112543452, MAST1 (R836Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519544	NM_014975.3(MAST1):c.711C>A (p.Asp237Glu)	LOC117125587, MAST1 (D237E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2501405	NM_014975.3(MAST1):c.2368C>T (p.Pro790Ser)	LOC112543452, MAST1 (P790S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496146	NM_014975.3(MAST1):c.2285G>T (p.Arg762Leu)	LOC112543452, MAST1 (R762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471616	NM_014975.3(MAST1):c.2270G>A (p.Gly757Asp)	LOC112543452, MAST1 (G757D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442014	NM_014975.3(MAST1):c.1118A>T (p.Asp373Val)	MAST1 (D373V)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2441632	NM_014975.3(MAST1):c.2110T>C (p.Phe704Leu)	MAST1 (F704L)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2433650	NM_014975.3(MAST1):c.2660C>T (p.Ala887Val)	MAST1 (A887V)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2433649	NM_014975.3(MAST1):c.3451G>A (p.Gly1151Ser)	MAST1 (G1151S)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2433648	NM_014975.3(MAST1):c.2560G>C (p.Glu854Gln)	MAST1 (E854Q)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	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 2420202	NM_014975.3(MAST1):c.2175G>A (p.Glu725=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2408753	NM_014975.3(MAST1):c.2410C>T (p.Pro804Ser)	LOC112543452, MAST1 (P804S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2327978	NM_014975.3(MAST1):c.2302G>A (p.Gly768Arg)	LOC112543452, MAST1 (G768R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312990	NM_014975.3(MAST1):c.2360A>G (p.Glu787Gly)	LOC112543452, MAST1 (E787G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230753	NM_014975.3(MAST1):c.150C>A (p.His50Gln)	LOC130063672, MAST1 (H50Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230582	NM_014975.3(MAST1):c.2375_2376insTGCTTT (p.Pro791_Leu792insPheAla)	LOC112543452, MAST1	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2189432	NM_014975.3(MAST1):c.172+8C>T	LOC130063672, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180545	NM_014975.3(MAST1):c.1010-10C>A	MAST1, MIR6794	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2175634	NM_014975.3(MAST1):c.663C>T (p.His221=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172428	NM_014975.3(MAST1):c.2333C>T (p.Ala778Val)	LOC112543452, MAST1 (A778V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169484	NM_014975.3(MAST1):c.2507G>T (p.Arg836Leu)	LOC112543452, MAST1 (R836L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2148893	NM_014975.3(MAST1):c.2427C>A (p.Ala809=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148868	NM_014975.3(MAST1):c.2467C>A (p.Pro823Thr)	LOC112543452, MAST1 (P823T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126054	NM_014975.3(MAST1):c.2331C>G (p.Ser777=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2108989	NM_014975.3(MAST1):c.2504C>T (p.Ala835Val)	LOC112543452, MAST1 (A835V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104875	NM_014975.3(MAST1):c.2302G>T (p.Gly768Trp)	LOC112543452, MAST1 (G768W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2091245	NM_014975.3(MAST1):c.2271C>A (p.Gly757=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080689	NM_014975.3(MAST1):c.2371C>T (p.Pro791Ser)	LOC112543452, MAST1 (P791S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080242	NM_014975.3(MAST1):c.2318+6C>T	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076400	NM_014975.3(MAST1):c.2492G>A (p.Gly831Glu)	LOC112543452, MAST1 (G831E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2075193	NM_014975.3(MAST1):c.2492G>T (p.Gly831Val)	LOC112543452, MAST1 (G831V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068547	NM_014975.3(MAST1):c.141G>A (p.Pro47=)	LOC130063672, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2066042	NM_014975.3(MAST1):c.774+8C>A	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065133	NM_014975.3(MAST1):c.2448G>A (p.Glu816=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043627	NM_014975.3(MAST1):c.489-6C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2042246	NM_014975.3(MAST1):c.2374T>C (p.Leu792=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040839	NM_014975.3(MAST1):c.2319-5T>C	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039541	NM_014975.3(MAST1):c.549G>A (p.Lys183=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039026	NM_014975.3(MAST1):c.2430C>T (p.Pro810=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2038555	NM_014975.3(MAST1):c.576G>A (p.Gln192=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2029336	NM_014975.3(MAST1):c.2470C>T (p.Arg824Trp)	LOC112543452, MAST1 (R824W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026254	NM_014975.3(MAST1):c.2400G>A (p.Ala800=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015977	NM_014975.3(MAST1):c.1010-17del	MAST1, MIR6794	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2003456	NM_014975.3(MAST1):c.2319-20A>G	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2003261	NM_014975.3(MAST1):c.489-18G>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003259	NM_014975.3(MAST1):c.489-11T>C	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995468	NM_014975.3(MAST1):c.172+13G>A	LOC130063672, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989387	NM_014975.3(MAST1):c.2236G>C (p.Glu746Gln)	LOC112543452, MAST1 (E746Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986350	NM_014975.3(MAST1):c.2380G>T (p.Ala794Ser)	LOC112543452, MAST1 (A794S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986189	NM_014975.3(MAST1):c.2319-9T>C	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985675	NM_014975.3(MAST1):c.2371C>A (p.Pro791Thr)	LOC112543452, MAST1 (P791T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1976620	NM_014975.3(MAST1):c.2502T>A (p.Asp834Glu)	LOC112543452, MAST1 (D834E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1975026	NM_014975.3(MAST1):c.2430C>G (p.Pro810=)	LOC112543452, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973606	NM_014975.3(MAST1):c.2141T>C (p.Val714Ala)	LOC112543452, MAST1 (V714A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973268	NM_014975.3(MAST1):c.2319-6A>G	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971794	NM_014975.3(MAST1):c.2318+14T>G	LOC112543452, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971454	NM_014975.3(MAST1):c.564+15G>A	MAST1, LOC117125587	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879417	NM_014975.3(MAST1):c.2344A>T (p.Ser782Cys)	LOC112543452, MAST1 (S782C)	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 1712286	NM_014975.3(MAST1):c.2311C>A (p.Pro771Thr)	LOC112543452, MAST1 (P771T)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 1685938	NM_014975.3(MAST1):c.691T>C (p.Cys231Arg)	LOC117125587, MAST1 (C231R)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GPathogenic

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