MAST1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 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 3048050	NM_014975.3(MAST1):c.-7C>A	LOC130063671, MAST1	Single nucleotide variant (5 prime UTR variant)	MAST1-related condition	GBenign
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 2973514	NM_014975.3(MAST1):c.15C>G (p.Leu5=)	LOC130063671, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2806219	NM_014975.3(MAST1):c.83+10dup	MAST1	Duplication (intron variant)	not provided	GBenign
Select item 2002262	NM_014975.3(MAST1):c.83+12A>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878959	NM_014975.3(MAST1):c.84-19del	MAST1	Deletion (intron variant)	not provided	GLikely benign
Select item 2905592	NM_014975.3(MAST1):c.84-8C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971801	NM_014975.3(MAST1):c.84-4G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718639	NM_014975.3(MAST1):c.96T>C (p.Ser32=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099761	NM_014975.3(MAST1):c.97A>C (p.Asn33His)	MAST1 (N33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111472	NM_014975.3(MAST1):c.112A>G (p.Ile38Val)	MAST1 (I38V)	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 2230753	NM_014975.3(MAST1):c.150C>A (p.His50Gln)	MAST1, LOC130063672 (H50Q)	Single nucleotide variant (missense variant)	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 1995468	NM_014975.3(MAST1):c.172+13G>A	LOC130063672, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973421	NM_014975.3(MAST1):c.173-15del	MAST1	Deletion (intron variant)	not provided	GBenign
Select item 2694106	NM_014975.3(MAST1):c.173-9C>G	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819372	NM_014975.3(MAST1):c.178_192del (p.Ser60_Ser64del)	MAST1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2063769	NM_014975.3(MAST1):c.175A>G (p.Ser59Gly)	MAST1 (S59G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 690392	NM_014975.3(MAST1):c.210dup (p.Asn71fs)	MAST1 (N71fs)	Duplication (frameshift variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GUncertain significance
Select item 2119595	NM_014975.3(MAST1):c.207C>A (p.Ser69=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972205	NM_014975.3(MAST1):c.215C>A (p.Thr72Asn)	MAST1 (T72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026505	NM_014975.3(MAST1):c.249-4C>G	MAST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2183928	NM_014975.3(MAST1):c.255C>T (p.Asp85=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027917	NM_014975.3(MAST1):c.256G>A (p.Gly86Arg)	MAST1 (G86R)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	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 235895	NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)	MAST1 (S93L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2776437	NM_014975.3(MAST1):c.321C>T (p.Thr107=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145559	NM_014975.3(MAST1):c.322G>A (p.Val108Ile)	MAST1 (V108I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715498	NM_014975.3(MAST1):c.328-5C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2649346	NM_014975.3(MAST1):c.420C>T (p.Thr140=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067559	NM_014975.3(MAST1):c.428T>C (p.Ile143Thr)	MAST1 (I143T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481787	NM_014975.3(MAST1):c.430A>C (p.Thr144Pro)	MAST1 (T144P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2873759	NM_014975.3(MAST1):c.435C>T (p.Asp145=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117578	NM_014975.3(MAST1):c.436G>A (p.Glu146Lys)	MAST1 (E146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003474	NM_014975.3(MAST1):c.452G>T (p.Arg151Leu)	MAST1 (R151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026447	NM_014975.3(MAST1):c.463G>T (p.Val155Leu)	MAST1 (V155L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033248	NM_014975.3(MAST1):c.478C>T (p.Arg160Trp)	MAST1 (R160W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971000	NM_014975.3(MAST1):c.488+18C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2782287	NM_014975.3(MAST1):c.488+20C>T	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003261	NM_014975.3(MAST1):c.489-18G>T	LOC117125587, 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 2003259	NM_014975.3(MAST1):c.489-11T>C	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043627	NM_014975.3(MAST1):c.489-6C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	MAST1-related condition +1 more	GBenign
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 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 2039541	NM_014975.3(MAST1):c.549G>A (p.Lys183=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971454	NM_014975.3(MAST1):c.564+15G>A	LOC117125587, MAST1	Single nucleotide variant (intron 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 2711631	NM_014975.3(MAST1):c.565-10C>T	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2038555	NM_014975.3(MAST1):c.576G>A (p.Gln192=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1675723	NM_014975.3(MAST1):c.578T>A (p.Met193Lys)	LOC117125587, MAST1 (M193K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599358	NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	LOC117125587, MAST1 (E195del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	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 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 2849871	NM_014975.3(MAST1):c.644G>A (p.Gly215Asp)	LOC117125587, MAST1 (G215D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175634	NM_014975.3(MAST1):c.663C>T (p.His221=)	LOC117125587, MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 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 2699787	NM_014975.3(MAST1):c.732C>T (p.Tyr244=)	LOC117125587, 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 2066042	NM_014975.3(MAST1):c.774+8C>A	LOC117125587, MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 2061445	NM_014975.3(MAST1):c.777C>T (p.Ala259=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1975692	NM_014975.3(MAST1):c.780T>C (p.Tyr260=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498756	NM_014975.3(MAST1):c.786C>T (p.Arg262=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	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 599359	NM_014975.3(MAST1):c.826AAG[1] (p.Lys277del)	MAST1 (K277del)	Microsatellite (inframe_deletion)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GPathogenic
Select item 599360	NM_014975.3(MAST1):c.832_834del (p.Leu279del)	MAST1 (L279del)	Deletion (inframe_deletion)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GPathogenic
Select item 2014096	NM_014975.3(MAST1):c.849A>G (p.Ser283=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1805192	NM_014975.3(MAST1):c.865C>G (p.Leu289Val)	MAST1 (L289V)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 1319774	NM_014975.3(MAST1):c.873C>A (p.Cys291Ter)	MAST1 (C291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2576579	NM_014975.3(MAST1):c.875T>A (p.Leu292Gln)	MAST1 (L292Q)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 2419730	NM_014975.3(MAST1):c.876+7G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187817	NM_014975.3(MAST1):c.876+8G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2798879	NM_014975.3(MAST1):c.877-13T>C	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879701	NM_014975.3(MAST1):c.877-12G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025381	NM_014975.3(MAST1):c.877-7G>A	MAST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873432	NM_014975.3(MAST1):c.888C>T (p.Pro296=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362016	NM_014975.3(MAST1):c.889G>A (p.Glu297Lys)	MAST1 (E297K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022822	NM_014975.3(MAST1):c.931A>C (p.Lys311Gln)	MAST1 (K311Q)	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 2793391	NM_014975.3(MAST1):c.954G>C (p.Thr318=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196587	NM_014975.3(MAST1):c.954G>A (p.Thr318=)	MAST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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