ClinVar for MedGen (Select 1784023) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340098	NM_003590.5(CUL3):c.1374_1377dup (p.Thr460fs)	CUL3 (T394fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 3255215	NM_003590.5(CUL3):c.247G>T (p.Glu83Ter)	CUL3 (E83* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 3242187	NM_003590.5(CUL3):c.1666T>C (p.Ser556Pro)	CUL3 (S490P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures	GUncertain significance
Select item 3235252	NM_003590.5(CUL3):c.1053del (p.Arg351fs)	CUL3 (R285fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 3065699	NM_003590.5(CUL3):c.287C>G (p.Ser96Ter)	CUL3 (S102* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 3065264	NM_003590.5(CUL3):c.2293A>G (p.Thr765Ala)	CUL3 (T699A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures	GUncertain significance
Select item 2572631	NM_003590.5(CUL3):c.1349del (p.Ser450fs)	CUL3 (S384fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 2500711	NM_003590.5(CUL3):c.1156_1159delinsTC (p.Glu386fs)	CUL3 (E320fs +2 more)	Indel (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 2498376	NM_003590.5(CUL3):c.567_574del (p.Met189fs)	CUL3 (M123fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 2445419	NM_003590.5(CUL3):c.1419_1425delinsTAAAC (p.Met473fs)	CUL3 (M407fs +2 more)	Indel (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 2443333	NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter)	CUL3 (W447* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures	GUncertain significance
Select item 2441683	NM_003590.5(CUL3):c.1629_1630del (p.His543fs)	CUL3 (H477fs +2 more)	Microsatellite (frameshift variant)	Pseudohypoaldosteronism type 2E +1 more	GLikely pathogenic
Select item 2094625	NM_003590.5(CUL3):c.1609A>G (p.Arg537Gly)	CUL3 (R537G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805942	NM_003590.5(CUL3):c.652C>T (p.Gln218Ter)	CUL3 (Q152* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 1805100	NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn)	CUL3 (D632N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GUncertain significance
Select item 1803956	NM_003590.5(CUL3):c.264+2T>G	CUL3	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 1709270	NM_003590.5(CUL3):c.909dup (p.Ser304Ter)	CUL3 (S238* +2 more)	Duplication (nonsense)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 1709001	NM_003590.5(CUL3):c.1035_1036dup (p.Leu346fs)	CUL3 (L280fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures	GPathogenic
Select item 1679660	NM_003590.5(CUL3):c.563A>G (p.Gln188Arg)	CUL3 (Q122R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +2 more	GUncertain significance
Select item 1455450	NM_003590.5(CUL3):c.1206+1G>T	CUL3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GConflicting classifications of pathogenicity
Select item 1254497	NM_003590.5(CUL3):c.383G>A (p.Arg128His)	CUL3 (R128H +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GConflicting classifications of pathogenicity
Select item 1214982	NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter)	CUL3 (R480* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures +2 more	GConflicting classifications of pathogenicity
Select item 1175991	NM_003590.5(CUL3):c.532G>A (p.Val178Ile)	CUL3 (V112I +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +3 more	GUncertain significance
Select item 974891	NM_003590.5(CUL3):c.1358dup (p.Asn453fs)	CUL3 (N387fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GConflicting classifications of pathogenicity
Select item 896708	NM_003590.5(CUL3):c.543C>T (p.Gly181=)	CUL3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without autism or seizures +2 more	GBenign/Likely benign
Select item 895283	NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg)	CUL3 (Q349R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 591542	NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr)	CUL3 (I749T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic
Select item 503870	NM_003590.5(CUL3):c.493_494del (p.Leu165fs)	CUL3 (L165fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures +3 more	GPathogenic/Likely pathogenic
Select item 334636	NM_003590.5(CUL3):c.264+9C>T	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334631	NM_003590.5(CUL3):c.883+13G>C	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334630	NM_003590.5(CUL3):c.1581A>T (p.Ala527=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334628	NM_003590.5(CUL3):c.2029+14T>C	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334627	NM_003590.5(CUL3):c.2052C>T (p.Ser684=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +4 more	GBenign/Likely benign

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Items: 33