Related gene-specific medical variations for Gene (Select 105373764) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364234	NM_016953.4(PDE11A):c.2328C>A (p.Asp776Glu)	PDE11A, PDE11A-AS1 (D332E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350294	NM_016953.4(PDE11A):c.2340C>G (p.Tyr780Ter)	PDE11A, PDE11A-AS1 (Y422* +3 more)	Single nucleotide variant (nonsense)	PDE11A-related disorder	GUncertain significance
Select item 3210617	NM_016953.4(PDE11A):c.2086G>A (p.Ala696Thr)	PDE11A, PDE11A-AS1 (A252T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068196	NM_016953.4(PDE11A):c.2245-14C>T	PDE11A, PDE11A-AS1	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely benign
Select item 3052905	NM_016953.4(PDE11A):c.2208C>T (p.His736=)	PDE11A, PDE11A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PDE11A-related disorder	GLikely benign
Select item 3041000	NM_016953.4(PDE11A):c.2071G>A (p.Glu691Lys)	PDE11A, PDE11A-AS1 (E247K +3 more)	Single nucleotide variant (missense variant)	PDE11A-related disorder	GLikely benign
Select item 2651569	NM_016953.4(PDE11A):c.2221G>A (p.Ala741Thr)	PDE11A, PDE11A-AS1 (A297T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2502294	NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)	PDE11A, PDE11A-AS1 (M368I +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2499345	NM_016953.4(PDE11A):c.2363T>C (p.Phe788Ser)	PDE11A, PDE11A-AS1 (F344S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434620	NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)	PDE11A, PDE11A-AS1 (R364* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2434619	NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)	PDE11A, PDE11A-AS1 (T238A +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2403800	NM_016953.4(PDE11A):c.2354C>T (p.Thr785Ile)	PDE11A, PDE11A-AS1 (T427I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299105	NM_016953.4(PDE11A):c.2101T>C (p.Cys701Arg)	PDE11A, PDE11A-AS1 (C451R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271596	NM_016953.4(PDE11A):c.2333C>T (p.Thr778Met)	PDE11A, PDE11A-AS1 (T334M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243285	NM_016953.4(PDE11A):c.2096T>C (p.Val699Ala)	PDE11A, PDE11A-AS1 (V341A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339695	NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)	PDE11A, PDE11A-AS1 (I300S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1333999	NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro)	PDE11A, PDE11A-AS1 (L335P +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1333998	NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe)	PDE11A, PDE11A-AS1 (L320F +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1326998	NM_016953.4(PDE11A):c.2424-47T>C	PDE11A, PDE11A-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1049041	NM_016953.4(PDE11A):c.2096T>A (p.Val699Glu)	PDE11A, PDE11A-AS1 (V255E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817261	NM_016953.4(PDE11A):c.2466dup (p.Pro823fs)	PDE11A, PDE11A-AS1 (P465fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 783991	NM_016953.4(PDE11A):c.2145C>T (p.Phe715=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 749915	NM_016953.4(PDE11A):c.2469G>A (p.Pro823=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 709623	NM_016953.4(PDE11A):c.2334G>A (p.Thr778=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 449079	NM_016953.4(PDE11A):c.2153+1G>A	PDE11A, PDE11A-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 286529	NM_016953.4(PDE11A):c.2308C>T (p.Gln770Ter)	PDE11A, PDE11A-AS1 (Q520* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 225431	NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)	PDE11A, PDE11A-AS1 (S313fs +3 more)	Deletion (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GPathogenic/Likely pathogenic
Select item 155581	GRCh38/hg38 2q31.2(chr2:177685412-177712027)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GLikely benign
Select item 155332	GRCh38/hg38 2q31.2(chr2:177685412-177712274)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance
Select item 155331	GRCh38/hg38 2q31.2(chr2:177685412-177720934)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance
Select item 151488	GRCh38/hg38 2q31.2(chr2:177685412-177711841)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 35