"Invitae"[submitter] AND "RRP1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 746239	NM_003683.6(RRP1):c.81G>A (p.Arg27=)	LOC130066790, RRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721368	NM_003683.6(RRP1):c.275-10C>T	RRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731015	NM_003683.6(RRP1):c.543C>T (p.Gly181=)	RRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782670	NM_003683.6(RRP1):c.803C>T (p.Pro268Leu)	RRP1 (P268L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727871	NM_003683.6(RRP1):c.816C>T (p.Ser272=)	RRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782727	NM_003683.6(RRP1):c.1124-10G>C	RRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-2, SIK1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 832239	NC_000021.8:g.(?_44838120)_(45629566_?)dup	AGPAT3, CSTB +8 more	Duplication	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	AGPAT3, AIRE +47 more	Duplication	not provided	GUncertain significance
Select item 830406	NC_000021.8:g.(?_44838120)_(45629566_?)del	PWP2, AGPAT3 +8 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 830405	NC_000021.8:g.(?_44836602)_(45629566_?)del	RRP1B, SIK1 +8 more	Deletion	Developmental and epileptic encephalopathy, 30	GPathogenic
Select item 647965	NC_000021.8:g.(?_43892908)_(45629566_?)del	HSF2BP, NDUFV3 +17 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 454509	NC_000021.8:g.(?_43892908)_(45629566_?)dup	NDUFV3, PDE9A +17 more	Duplication	Primary ciliary dyskinesia	GUncertain significance