ClinVar for MedGen (Select 1648439) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2501671	NM_014975.3(MAST1):c.1298T>C (p.Phe433Ser)	MAST1 (F433S)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GLikely pathogenic
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 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 1805144	NM_014975.3(MAST1):c.1594G>C (p.Glu532Gln)	MAST1 (E532Q)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GLikely pathogenic
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 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 1698956	NM_014975.3(MAST1):c.1568T>C (p.Leu523Pro)	MAST1 (L523P)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GPathogenic
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 1679266	NM_014975.3(MAST1):c.1580C>A (p.Thr527Asn)	MAST1 (T527N)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GLikely pathogenic
Select item 1342506	NM_014975.3(MAST1):c.3506C>T (p.Ser1169Leu)	MAST1 (S1169L)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GUncertain significance
Select item 1341831	NM_014975.3(MAST1):c.2986G>A (p.Val996Ile)	MAST1 (V996I)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 1065518	NM_014975.3(MAST1):c.2296T>C (p.Trp766Arg)	LOC112543452, MAST1 (W766R)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
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 1027916	NM_014975.3(MAST1):c.2361G>T (p.Glu787Asp)	LOC112543452, MAST1 (E787D)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GUncertain significance
Select item 978706	NM_014975.3(MAST1):c.4093G>A (p.Gly1365Ser)	MAST1 (G1365S)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 976783	NM_014975.3(MAST1):c.3923C>T (p.Ala1308Val)	MAST1 (A1308V)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 931679	NM_014975.3(MAST1):c.2294C>T (p.Thr765Ile)	LOC112543452, MAST1 (T765I)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 930806	NM_014975.3(MAST1):c.1177C>T (p.His393Tyr)	MAST1 (H393Y)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
Select item 930256	NM_014975.3(MAST1):c.2354A>T (p.Glu785Val)	MAST1, LOC112543452 (E785V)	Single nucleotide variant (missense variant)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	GUncertain significance
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 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 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 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 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 599358	NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	LOC117125587, MAST1 (E195del)	Microsatellite (inframe_deletion)	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +1 more	GConflicting classifications of pathogenicity
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

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Items: 33