Related gene-specific medical variations for Gene (Select 100526739) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265948	NM_198544.4(CENPS-CORT):c.183T>G (p.Phe61Leu)	CENPS, CENPS-CORT (F61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265945	NM_198544.4(CENPS-CORT):c.215C>T (p.Ala72Val)	CENPS, CENPS-CORT (A51V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265944	NM_198544.4(CENPS-CORT):c.143C>T (p.Ala48Val)	CENPS, CENPS-CORT (A48V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142427	NM_198544.4(CENPS-CORT):c.25G>A (p.Glu9Lys)	CENPS, CENPS-CORT +1 more (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142424	NM_198544.4(CENPS-CORT):c.243T>A (p.Asp81Glu)	CENPS, CENPS-CORT (D60E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142423	NM_198544.4(CENPS-CORT):c.116A>G (p.Glu39Gly)	CENPS, CENPS-CORT (E39G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606841	NM_198544.4(CENPS-CORT):c.412G>A (p.Gly138Ser)	CENPS-CORT, CORT (G79S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606347	NM_198544.4(CENPS-CORT):c.11A>C (p.Glu4Ala)	CENPS, CENPS-CORT (E4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507990	NM_001302.5(CORT):c.20T>G (p.Leu7Arg)	CENPS-CORT, CORT (L7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482329	NM_001302.5(CORT):c.89G>A (p.Arg30Gln)	CENPS-CORT, CORT (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457582	NM_198544.4(CENPS-CORT):c.404G>A (p.Arg135Gln)	CENPS-CORT, CORT (R76Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353187	NM_001302.5(CORT):c.47C>T (p.Thr16Met)	CENPS-CORT, CORT (T16M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance