MSI1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 2550966	NM_002442.4(MSI1):c.1064C>T (p.Thr355Ile)	MSI1 (T233I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299879	NM_002442.4(MSI1):c.938C>T (p.Pro313Leu)	MSI1 (P210L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296430	NM_002442.4(MSI1):c.896C>T (p.Ser299Leu)	MSI1 (S177L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388276	NM_002442.4(MSI1):c.832G>A (p.Ala278Thr)	MSI1 (A175T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591502	NM_002442.4(MSI1):c.821C>T (p.Ala274Val)	MSI1 (A152V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532289	NM_002442.4(MSI1):c.578C>T (p.Thr193Met)	MSI1 (T125M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317397	NM_002442.4(MSI1):c.530A>C (p.Lys177Thr)	MSI1 (K126T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211551	NM_002442.4(MSI1):c.492G>T (p.Glu164Asp)	MSI1 (E164D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721285	NM_002442.4(MSI1):c.452-3T>C	MSI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2331427	NM_002442.4(MSI1):c.292C>T (p.Arg98Trp)	MSI1 (R97W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515336	NM_002442.4(MSI1):c.220G>A (p.Val74Met)	MSI1 (V23M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 741505	NM_002442.4(MSI1):c.216G>C (p.Ala72=)	MSI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211544	NM_002442.4(MSI1):c.14C>T (p.Ala5Val)	MSI1 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238131	NM_002442.4(MSI1):c.14C>A (p.Ala5Glu)	MSI1 (A5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808296	GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	COQ5, COX6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28