Related gene-specific medical variations for Gene (Select 79703) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313418	NM_005133.3(RCE1):c.10C>G (p.Leu4Val)	RCE1, TOP6BL (L4V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152708	NM_005133.3(RCE1):c.19G>A (p.Asp7Asn)	RCE1, TOP6BL (D7N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152706	NM_005133.3(RCE1):c.13G>A (p.Gly5Ser)	RCE1, TOP6BL (G5S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3058840	NM_001302084.2(TOP6BL):c.-127CGG[9]	FRA11A, LOC130006135 +1 more	Microsatellite (5 prime UTR variant)	TOP6BL-related disorder	GBenign
Select item 3044828	NM_001302084.2(TOP6BL):c.1422C>T (p.His474=)	LOC130006139, TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
Select item 3035172	NM_001302084.2(TOP6BL):c.-127CGG[4]	FRA11A, LOC130006135 +1 more	Microsatellite (5 prime UTR variant)	TOP6BL-related disorder	GLikely benign
Select item 2571602	NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)	TOP6BL (K425fs +1 more)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 4	GLikely pathogenic
Select item 2540607	NM_005133.3(RCE1):c.16G>A (p.Gly6Arg)	RCE1, TOP6BL (G6R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2378671	NM_005133.3(RCE1):c.44C>T (p.Ser15Leu)	RCE1, TOP6BL (S15L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance