Related gene-specific medical variations for Gene (Select 51066) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170544	NM_001256748.3(SSUH2):c.946G>A (p.Ala316Thr)	LOC122889024, SSUH2 (A243T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535365	NM_001256748.3(SSUH2):c.907A>G (p.Ile303Val)	LOC122889024, SSUH2 (I303V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410735	NM_001256748.3(SSUH2):c.924G>T (p.Gln308His)	LOC122889024, SSUH2 (Q308H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405479	NM_001256748.3(SSUH2):c.902G>A (p.Arg301Gln)	LOC122889024, SSUH2 (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359032	NM_001256748.3(SSUH2):c.968G>A (p.Arg323His)	LOC122889024, SSUH2 (R323H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329089	NM_001256748.3(SSUH2):c.917C>G (p.Ala306Gly)	LOC122889024, SSUH2 (A233G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526996	GRCh37/hg19 3p26.1-25.3(chr3:8652091-8756423)	SSUH2	Copy number loss	not specified	GUncertain significance
Select item 1340193	GRCh37/hg19 3p26.1-25.3(chr3:8652027-8756423)x1	SSUH2	Copy number loss	not provided	GLikely benign
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic