"GeneDx"[submitter] AND "LOC126653391"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1706952	NM_080860.4(RSPH1):c.168+36A>G	LOC126653391, RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 241781	NM_080860.4(RSPH1):c.120C>T (p.Asn40=)	LOC126653391, RSPH1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 1229085	NM_080860.4(RSPH1):c.55-181C>T	LOC126653391, RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282367	NM_080860.4(RSPH1):c.55-189T>C	RSPH1, LOC126653391	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276043	NM_080860.4(RSPH1):c.55-232C>T	LOC126653391, RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar