LOC129998846[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 781041	NM_014916.4(LMTK2):c.4149G>C (p.Ala1383=)	LMTK2, LOC129998846	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2332788	NM_014916.4(LMTK2):c.4153G>A (p.Gly1385Ser)	LMTK2, LOC129998846 (G1385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513603	NM_014916.4(LMTK2):c.4168G>A (p.Gly1390Ser)	LMTK2, LOC129998846 (G1390S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119419	NM_014916.4(LMTK2):c.4187G>T (p.Gly1396Val)	LMTK2, LOC129998846 (G1396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365463	NM_014916.4(LMTK2):c.4192C>T (p.Pro1398Ser)	LMTK2, LOC129998846 (P1398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119420	NM_014916.4(LMTK2):c.4229C>T (p.Thr1410Ile)	LMTK2, LOC129998846 (T1410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar