"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RSPH4A"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656865	NM_001010892.3(RSPH4A):c.39C>T (p.Asn13=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 165059	NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)	RSPH4A (R244H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2656866	NM_001010892.3(RSPH4A):c.759A>G (p.Glu253=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571259	NM_001010892.3(RSPH4A):c.1105G>C (p.Ala369Pro)	RSPH4A (A369P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178801	NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)	RSPH4A (V497I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 624551	GRCh37/hg19 6q22.1(chr6:116901182-117062990)x1	KPNA5, RSPH4A +2 more	Copy number loss	not provided	GUncertain significance
Select item 425540	GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	FRK, HS3ST5 +12 more	Copy number gain	not provided	GUncertain significance

ClinVar