Related gene-specific medical variations for Gene (Select 9101) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187742	NM_203494.5(USP50):c.1000G>C (p.Ala334Pro)	USP50, USP8 (A334P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026574	NM_005154.5(USP8):c.2835A>T (p.Thr945=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989900	NM_005154.5(USP8):c.3038+22_3038+24del	USP50, USP8	Microsatellite (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2881763	NM_005154.5(USP8):c.2746C>A (p.Gln916Lys)	USP50, USP8 (Q810K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2814692	NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile)	USP50, USP8 (K991I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2720399	NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr)	USP50, USP8 (S1027T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2148913	NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys)	USP8, USP50 (Y1040C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2148678	NM_005154.5(USP8):c.3018G>A (p.Val1006=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2146863	NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln)	USP50, USP8 (R1006Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2133028	NM_005154.5(USP8):c.2983C>G (p.Leu995Val)	USP50, USP8 (L889V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2016045	NM_005154.5(USP8):c.2519G>A (p.Gly840Glu)	USP50, USP8 (G734E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1962026	NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser)	USP50, USP8 (L1003S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1809407	GRCh37/hg19 15q21.2(chr15:50705605-50770917)x1	USP8	Copy number loss	not provided	GUncertain significance
Select item 1637146	NM_005154.5(USP8):c.3180C>T (p.Tyr1060=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1601681	NM_005154.5(USP8):c.3172-16_3172-13dup	USP50, USP8	Duplication (intron variant)	Hereditary spastic paraplegia	GBenign
Select item 1600284	NM_005154.5(USP8):c.3038+16T>G	USP50, USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1592472	NM_005154.5(USP8):c.2523G>A (p.Gln841=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1589684	NM_005154.5(USP8):c.2532T>C (p.Tyr844=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1517217	NM_005154.5(USP8):c.2624T>C (p.Phe875Ser)	USP50, USP8 (F769S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1368906	NM_005154.5(USP8):c.2972G>A (p.Arg991Gln)	USP50, USP8 (R991Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1044045	NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala)	USP50, USP8 (S992A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 943330	NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)	USP50, USP8 (R1112* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 938030	NM_005154.5(USP8):c.2842G>C (p.Ala948Pro)	USP50, USP8 (A842P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 915336	NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)	USP50, USP8 (R885* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 769881	NM_203494.5(USP50):c.962G>C (p.Gly321Ala)	USP50, USP8 (G321A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 741872	NM_005154.5(USP8):c.2754T>C (p.Asn918=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729257	NM_005154.5(USP8):c.2634T>C (p.Asp878=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717307	NM_005154.5(USP8):c.3105T>G (p.Leu1035=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706806	NM_005154.5(USP8):c.2895+3_2895+7dup	USP50, USP8	Duplication (splice donor variant)	not provided	GLikely benign
Select item 704486	NM_005154.5(USP8):c.2896-9T>C	USP50, USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 584095	NC_000015.9:g.(?_50789266)_(50791305_?)dup	USP8, USP50	Duplication	Hereditary spastic paraplegia	GUncertain significance
Select item 528044	NM_005154.5(USP8):c.2511G>A (p.Leu837=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 458316	NM_005154.5(USP8):c.3033G>A (p.Leu1011=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 458315	NM_005154.5(USP8):c.2658+5_2658+8dup	USP50, USP8	Duplication (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 441073	NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala)	USP50, USP8 (P1044A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 242628	NM_005154.5(USP8):c.2138T>G (p.Leu713Arg)	USP8 (L713R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242627	NM_005154.5(USP8):c.2150A>G (p.Tyr717Cys)	USP8 (Y717C +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 37