Related gene-specific medical variations for Gene (Select 23358) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534717	NM_015306.3(USP24):c.223G>A (p.Gly75Arg)	LOC129930598, USP24 (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534716	NM_015306.3(USP24):c.208C>T (p.Pro70Ser)	LOC129930598, USP24 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525300	NM_015306.3(USP24):c.67A>G (p.Ile23Val)	LOC129930599, USP24 (I23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346521	NM_015306.3(USP24):c.23A>G (p.His8Arg)	LOC129930599, USP24 (H8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250368	NM_015306.3(USP24):c.13G>C (p.Glu5Gln)	LOC129930599, USP24 (E5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980378	GRCh37/hg19 1p32.3-32.2(chr1:55624170-56204822)x3	USP24	Copy number gain	not provided	GUncertain significance
Select item 689159	GRCh37/hg19 1p32.3-32.2(chr1:55623897-56180866)x3	USP24	Copy number gain	not provided	GUncertain significance
Select item 599597	NM_015306.3(USP24):c.2491A>G (p.Met831Val)	USP24 (M831V)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599596	NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe)	USP24 (Y916F)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599595	NM_015306.3(USP24):c.7448-7C>T	USP24	Single nucleotide variant (intron variant)	Short stature	GLikely pathogenic