ClinVar for Gene (Select 126861257) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631140	NM_006185.4(NUMA1):c.752T>C (p.Ile251Thr)	LOC100128494, LOC126861257 +1 more (I251T)	Single nucleotide variant (missense variant +1 more)	NUMA1-related condition	GUncertain significance
Select item 2398598	NM_006185.4(NUMA1):c.897C>G (p.Cys299Trp)	LOC100128494, LOC126861257 +1 more (C299W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389447	NM_006185.4(NUMA1):c.868A>G (p.Met290Val)	LOC100128494, LOC126861257 +1 more (M290V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2345266	NM_006185.4(NUMA1):c.790C>G (p.Leu264Val)	LOC100128494, LOC126861257 +1 more (L264V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239187	NM_006185.4(NUMA1):c.806C>T (p.Ala269Val)	LOC100128494, LOC126861257 +1 more (A269V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 711556	NM_006185.4(NUMA1):c.725A>G (p.Lys242Arg)	LOC100128494, LOC126861257 +1 more (K242R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance