"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PDE11A" - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 742026	NM_016953.4(PDE11A):c.2743G>C (p.Ala915Pro)	PDE11A (A665P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718046	NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)	PDE11A (A439T +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GLikely benign
Select item 741896	NM_016953.4(PDE11A):c.2640G>T (p.Leu880Phe)	PDE11A (L522F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 377121	NM_016953.4(PDE11A):c.2632A>G (p.Met878Val)	PDE11A (M628V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 749915	NM_016953.4(PDE11A):c.2469G>A (p.Pro823=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799365	NM_016953.4(PDE11A):c.2424-1G>C	PDE11A, PDE11A-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 787776	NM_016953.4(PDE11A):c.2388C>T (p.Tyr796=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709623	NM_016953.4(PDE11A):c.2334G>A (p.Thr778=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726177	NM_016953.4(PDE11A):c.2266C>T (p.Leu756=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750685	NM_016953.4(PDE11A):c.2223C>A (p.Ala741=)	PDE11A, PDE11A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 783991	NM_016953.4(PDE11A):c.2145C>T (p.Phe715=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734357	NM_016953.4(PDE11A):c.2043+7G>A	PDE11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738406	NM_016953.4(PDE11A):c.2034G>A (p.Ala678=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794603	NM_016953.4(PDE11A):c.1986A>G (p.Leu662=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709193	NM_016953.4(PDE11A):c.1977G>T (p.Arg659=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788478	NM_016953.4(PDE11A):c.1854C>T (p.Leu618=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790257	NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)	PDE11A (D251N +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 725563	NM_016953.4(PDE11A):c.1743A>G (p.Leu581=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725065	NM_016953.4(PDE11A):c.1660del (p.Cys554fs)	PDE11A (C304fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725066	NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr)	PDE11A (I194T +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 733623	NM_016953.4(PDE11A):c.1577-4A>G	PDE11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732926	NM_016953.4(PDE11A):c.1485G>A (p.Pro495=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753377	NM_016953.4(PDE11A):c.1303-6C>T	PDE11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742399	NM_016953.4(PDE11A):c.1170A>T (p.Leu390=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728730	NM_016953.4(PDE11A):c.1161+9A>G	PDE11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 5286	NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	PDE11A (R307* +1 more)	Single nucleotide variant (nonsense)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 746374	NM_016953.4(PDE11A):c.870C>T (p.Val290=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714278	NM_016953.4(PDE11A):c.799C>T (p.Leu267=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 742521	NM_016953.4(PDE11A):c.711C>T (p.Arg237=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708531	NM_016953.4(PDE11A):c.657C>T (p.Thr219=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 761504	NM_016953.4(PDE11A):c.622T>C (p.Leu208=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713888	NM_016953.4(PDE11A):c.604C>T (p.Arg202Cys)	PDE11A (R202C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 737462	NM_016953.4(PDE11A):c.480G>A (p.Lys160=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745680	NM_016953.4(PDE11A):c.363A>G (p.Leu121=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726310	NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg)	PDE11A (G77R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 208602	NM_016953.4(PDE11A):c.171del (p.Thr58fs)	PDE11A (T58fs)	Deletion (frameshift variant +1 more)	Pigmented nodular adrenocortical disease, primary, 2 +3 more	GConflicting classifications of pathogenicity
Select item 378338	NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)	PDE11A (R52T)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 788479	NM_016953.4(PDE11A):c.147A>G (p.Leu49=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 732821	NM_016953.4(PDE11A):c.60G>A (p.Glu20=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247478	NC_000002.11:g.(?_178257518)_(179914668_?)del	AGPS, CCDC141 +10 more	Deletion	not provided	GPathogenic
Select item 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 2424717	NC_000002.11:g.(?_178095513)_(178705130_?)dup	AGPS, IFT70A +3 more	Duplication	not provided	GUncertain significance

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Items: 43