USP9Y[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9757	NM_004654.4(USP9Y):c.773+3_773+6del	USP9Y	Microsatellite (splice donor variant)	Spermatogenic failure, Y-linked, 2	GPathogenic
Select item 3034703	NM_004654.4(USP9Y):c.1385C>G (p.Ser462Cys)	USP9Y (S462C)	Single nucleotide variant (missense variant)	USP9Y-related disorder	GLikely benign
Select item 2661886	NM_004654.4(USP9Y):c.2661C>T (p.Leu887=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049353	NM_004654.4(USP9Y):c.3283-6_3283-5del	USP9Y	Deletion (intron variant)	USP9Y-related disorder	GLikely benign
Select item 3026627	NM_004654.4(USP9Y):c.3433C>T (p.Arg1145Ter)	USP9Y (R1145*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2438504	NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)	USP9Y (L1279V)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2661887	NM_004654.4(USP9Y):c.4030A>C (p.Arg1344=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1269192	NM_004654.4(USP9Y):c.4491C>T (p.Pro1497=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499164	NM_004654.4(USP9Y):c.4877T>C (p.Phe1626Ser)	USP9Y (F1626S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661888	NM_004654.4(USP9Y):c.5195+3A>G	USP9Y	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2661889	NM_004654.4(USP9Y):c.5473G>T (p.Asp1825Tyr)	USP9Y (D1825Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438505	NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)	USP9Y (T1975I)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2627757	NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)	USP9Y (G2115C)	Single nucleotide variant (missense variant)	Spermatogenic failure, Y-linked, 2	GUncertain significance
Select item 2661890	NM_004654.4(USP9Y):c.6384C>T (p.Ser2128=)	USP9Y	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026811	NM_004654.4(USP9Y):c.6476G>A (p.Arg2159Lys)	USP9Y (R2159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816436	GRCh37/hg19 Yq11.21(chrY:14939205-14993542)x0	USP9Y	Copy number loss	not provided	GUncertain significance
Select item 9758	USP9Y, DEL	USP9Y	Deletion	Hypospermatogenesis, nonobstructive, Y-linked	GPathogenic