"Invitae"[submitter] AND "ENTPD2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776479	NM_203468.3(ENTPD2):c.1438G>A (p.Val480Ile)	ENTPD2 (V480I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770202	NM_203468.3(ENTPD2):c.1029G>C (p.Val343=)	ENTPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776480	NM_203468.3(ENTPD2):c.714C>T (p.His238=)	ENTPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776481	NM_203468.3(ENTPD2):c.578G>A (p.Arg193Gln)	ENTPD2 (R193Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	LCN10, LCN12 +49 more	Duplication	Intellectual disability, autosomal dominant 8 +2 more	GUncertain significance
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	CLIC3, CYSRT1 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity