MSI2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 2486050	NM_138962.4(MSI2):c.115G>A (p.Asp39Asn)	MSI2 (D35N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151584	GRCh38/hg38 17q22(chr17:57347044-57486761)x1	LOC121587604, LOC125177518 +12 more	Copy number loss	See cases	GLikely benign
Select item 2672111	NM_138962.4(MSI2):c.385T>C (p.Tyr129His)	MSI2 (Y107H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 151511	GRCh38/hg38 17q22(chr17:57458711-57486761)x1	LOC125177518, LOC130061241 +5 more	Copy number loss	See cases	GLikely benign
Select item 2235503	NM_138962.4(MSI2):c.425T>C (p.Met142Thr)	MSI2 (M142T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376121	NM_138962.4(MSI2):c.527A>G (p.Asn176Ser)	MSI2 (N154S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211577	NM_138962.4(MSI2):c.592G>A (p.Gly198Ser)	MSI2 (G176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211580	NM_138962.4(MSI2):c.811G>A (p.Gly271Arg)	MSI2 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251067	NM_138962.4(MSI2):c.859G>A (p.Gly287Ser)	MSI2 (G287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366718	NM_138962.4(MSI2):c.868A>G (p.Ser290Gly)	MSI2 (S286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264509	NM_138962.4(MSI2):c.887G>A (p.Gly296Glu)	MSI2 (G292E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397960	NM_138962.4(MSI2):c.931G>A (p.Gly311Ser)	MSI2 (G311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211589	NM_138962.4(MSI2):c.958G>A (p.Ala320Thr)	MSI2 (A320T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	MRPS23, MSI2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 1808345	GRCh37/hg19 17q22(chr17:55425668-55856050)x3	MSI2	Copy number gain	not provided	GUncertain significance
Select item 1808271	GRCh37/hg19 17q22(chr17:55356209-55680113)x3	MSI2	Copy number gain	not provided	GUncertain significance
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1526580	GRCh37/hg19 17q22(chr17:55368089-55509017)	MSI2	Copy number loss	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 687758	GRCh37/hg19 17q22(chr17:55714826-55909984)x3	MSI2	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

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Items: 30