Related gene-specific medical variations for Gene (Select 100526842) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156043	NM_001035006.5(RPL17):c.167A>T (p.Gln56Leu)	RPL17, RPL17-C18orf32 (Q18L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524610	NM_001035006.5(RPL17):c.542T>C (p.Met181Thr)	RPL17, RPL17-C18orf32 (M171T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304909	NM_001035005.4(C18orf32):c.200C>T (p.Pro67Leu)	C18orf32, RPL17-C18orf32 (P67L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277746	NM_001035006.5(RPL17):c.191A>G (p.Asn64Ser)	RPL17, RPL17-C18orf32 (N64S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261563	NM_001035005.4(C18orf32):c.167G>T (p.Gly56Val)	C18orf32, RPL17-C18orf32 (G56V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2171503	NM_001035005.4(C18orf32):c.90dup (p.Phe31fs)	C18orf32, RPL17-C18orf32 (F31fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 394572	GRCh37/hg19 18q21.1(chr18:47015598-47015679)x3	RPL17, RPL17-C18orf32	Copy number gain	See cases	GBenign/Likely benign
Select item 394527	GRCh37/hg19 18q21.1(chr18:47015598-47015643)x3	RPL17, RPL17-C18orf32	Copy number gain	See cases	GBenign

ClinVar