ClinVar for MedGen (Select 355843) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3058344	NM_016953.4(PDE11A):c.1738-10T>G	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GLikely benign
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 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 2432528	NM_016953.4(PDE11A):c.126_127del (p.His42fs)	PDE11A (H42fs)	Microsatellite (frameshift variant +1 more)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2432520	NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)	PDE11A (Y133* +2 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 1342528	NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln)	PDE11A (P449Q +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	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 1333997	NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)	PDE11A (Q194fs +3 more)	Indel (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 1333996	NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile)	PDE11A (V148I +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1327002	NM_016953.4(PDE11A):c.1576+26C>T	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1327001	NM_016953.4(PDE11A):c.1577-3T>C	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1327000	NM_016953.4(PDE11A):c.1626A>G (p.Ala542=)	PDE11A	Single nucleotide variant (synonymous variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1326999	NM_016953.4(PDE11A):c.1737+22G>A	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1326998	NM_016953.4(PDE11A):c.2424-47T>C	PDE11A, PDE11A-AS1	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1326997	NM_016953.4(PDE11A):c.2488-29T>C	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1326996	NM_016953.4(PDE11A):c.2563-26G>A	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 1324868	NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter)	PDE11A (Q171* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 1324867	NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs)	PDE11A (S174fs +2 more)	Deletion (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 1268706	NM_016953.4(PDE11A):c.551G>A (p.Arg184Gln)	PDE11A (R184Q)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GBenign
Select item 1246954	NM_016953.4(PDE11A):c.792A>C (p.Thr264=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1230360	NM_016953.4(PDE11A):c.2758TCC[3] (p.Ser921dup)	PDE11A	Microsatellite (inframe_insertion)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GBenign
Select item 1031979	NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr)	PDE11A (P165T)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1028036	NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)	PDE11A (I515T +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 801831	NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)	PDE11A (Y300C +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
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 718046	NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)	PDE11A (A439T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 617896	NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)	DSC2 (R375*)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2 +2 more	GConflicting classifications of pathogenicity
Select item 560139	Single allele	PDE11A	Duplication	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 225434	NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)	PDE11A (R79* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225433	NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)	PDE11A (S160* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GPathogenic/Likely pathogenic
Select item 225432	NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)	PDE11A (R7fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 208602	NM_016953.4(PDE11A):c.171del (p.Thr58fs)	PDE11A (T58fs)	Deletion (frameshift variant +1 more)	PDE11A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 5286	NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	PDE11A (R307* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 38