Related gene-specific medical variations for Gene (Select 128153) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168217	NM_138796.4(SPATA17):c.740T>C (p.Ile247Thr)	SPATA17, SPATA17-AS1 (I247T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2639902	NM_138796.4(SPATA17):c.863A>T (p.Asn288Ile)	SPATA17, SPATA17-AS1 (N288I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 814161	GRCh37/hg19 1q41(chr1:217857591-218182225)x3	SPATA17	Copy number gain	not provided	GUncertain significance

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