"Ambry Genetics"[submitter] AND "LOC129997052"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2451385	NM_001010892.3(RSPH4A):c.91T>C (p.Ser31Pro)	LOC129997052, RSPH4A (S31P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451393	NM_001010892.3(RSPH4A):c.92C>T (p.Ser31Phe)	LOC129997052, RSPH4A (S31F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 415506	NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 666983	NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	LOC129997052, RSPH4A (S39*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +2 more	GPathogenic/Likely pathogenic
Select item 1741911	NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 93465	NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2347502	NM_001010892.3(RSPH4A):c.157C>T (p.Arg53Cys)	LOC129997052, RSPH4A (R53C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

ClinVar