"GeneDx"[submitter] AND "TIPIN"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561817	NM_002755.3(MAP2K1):c.-767A>C	TIPIN, LOC130057338 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561873	NM_002755.3(MAP2K1):c.-695A>T	LOC130057338, MAP2K1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 561875	NM_002755.3(MAP2K1):c.-631C>T	MAP2K1, TIPIN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253805	GRCh37/hg19 15q22.31(chr15:66643638-66745287)x1	TIPIN, MAP2K1	Copy number loss	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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