"GeneDx"[submitter] AND "RSPH1"[gene] - ClinVar

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Items: 60

	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 1179831	NM_080860.4(RSPH1):c.*287A>G	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1203261	NM_080860.4(RSPH1):c.*229G>A	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1678821	NM_080860.4(RSPH1):c.*189C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1271567	NM_080860.4(RSPH1):c.*182G>A	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274561	NM_080860.4(RSPH1):c.*153C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283939	NM_080860.4(RSPH1):c.*53C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263479	NM_080860.4(RSPH1):c.878-204C>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250884	NM_080860.4(RSPH1):c.877+311A>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250641	NM_080860.4(RSPH1):c.877+310C>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282349	NM_080860.4(RSPH1):c.877+284A>C	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203615	NM_080860.4(RSPH1):c.877+149G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271573	NM_080860.4(RSPH1):c.877+112G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343026	NM_080860.4(RSPH1):c.864T>G (p.Tyr288Ter)	RSPH1 (Y250* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 227052	NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	RSPH1 (G248R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1209488	NM_080860.4(RSPH1):c.728-79del	RSPH1	Deletion (intron variant)	not provided	GLikely benign
Select item 1183175	NM_080860.4(RSPH1):c.728-129G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282368	NM_080860.4(RSPH1):c.728-244T>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249957	NM_080860.4(RSPH1):c.728-307C>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234489	NM_080860.4(RSPH1):c.727+285_727+317del	RSPH1	Microsatellite (intron variant)	not provided	GBenign
Select item 1210952	NM_080860.4(RSPH1):c.727+291G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186676	NM_080860.4(RSPH1):c.727+286G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248477	NM_080860.4(RSPH1):c.727+280del	RSPH1	Deletion (intron variant)	not provided	GBenign
Select item 1211723	NM_080860.4(RSPH1):c.727+258G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189080	NM_080860.4(RSPH1):c.727+218T>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200320	NM_080860.4(RSPH1):c.727+201G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251565	NM_080860.4(RSPH1):c.727+190G>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207872	NM_080860.4(RSPH1):c.727+180A>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252277	NM_080860.4(RSPH1):c.727+166T>C	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232861	NM_080860.4(RSPH1):c.727+160G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201770	NM_080860.4(RSPH1):c.727+52_727+83del	RSPH1	Deletion (intron variant)	not provided	GLikely benign
Select item 1207183	NM_080860.4(RSPH1):c.727+67_727+68insGGGGT	RSPH1	Insertion (intron variant)	not provided	GLikely benign
Select item 1188311	NM_080860.4(RSPH1):c.727+67_727+68insGGGGG	RSPH1	Insertion (intron variant)	not provided	GLikely benign
Select item 1254726	NM_080860.4(RSPH1):c.727+65_727+66insGAGT	RSPH1	Insertion (intron variant)	not provided	GLikely benign
Select item 1269061	NM_080860.4(RSPH1):c.727+46G>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 24 +1 more	GBenign
Select item 1202397	NM_080860.4(RSPH1):c.727+35G>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214017	NM_080860.4(RSPH1):c.727+19del	RSPH1	Deletion (intron variant)	Primary ciliary dyskinesia 24 +2 more	GBenign/Likely benign
Select item 454951	NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)	RSPH1 (S243G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408129	NM_080860.4(RSPH1):c.673C>T (p.Pro225Ser)	RSPH1 (P225S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 241788	NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	RSPH1 (L217W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 227051	NM_080860.4(RSPH1):c.579A>G (p.Arg193=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 1238016	NM_080860.4(RSPH1):c.574-217T>C	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228064	NM_080860.4(RSPH1):c.574-293G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183893	NM_080860.4(RSPH1):c.574-312T>C	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179322	NM_080860.4(RSPH1):c.502-138=	RSPH1	Variation (intron variant)	not provided	GBenign
Select item 227050	NM_080860.4(RSPH1):c.393G>A (p.Ala131=)	RSPH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1279611	NM_080860.4(RSPH1):c.365+130C>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504821	NM_080860.4(RSPH1):c.365+13T>C	RSPH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 66990	NM_080860.4(RSPH1):c.275-2A>C	RSPH1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 1206632	NM_080860.4(RSPH1):c.275-151G>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202698	NM_080860.4(RSPH1):c.275-226G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
Select item 1297838	NM_080860.4(RSPH1):c.-43C>T	LOC130066749, RSPH1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 60