ClinVar for Gene (Select 105373764) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 45

	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 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
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
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 45