Related gene-specific medical variations for Gene (Select 8452) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3052679	NM_003590.5(CUL3):c.66+10T>C	CUL3, LOC129935709	Single nucleotide variant (intron variant)	CUL3-related disorder	GLikely benign
Select item 2630693	NM_003590.5(CUL3):c.65C>T (p.Pro22Leu)	CUL3, LOC129935709 (P22L)	Single nucleotide variant (missense variant)	CUL3-related disorder	GUncertain significance
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 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 2440624	NM_003590.5(CUL3):c.1939G>T (p.Glu647Ter)	CUL3 (E581* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2440623	NM_003590.5(CUL3):c.817A>G (p.Met273Val)	CUL3 (M207V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440621	NM_003590.5(CUL3):c.1377+35_1377+38del	CUL3	Deletion (intron variant)	not provided	GUncertain significance
Select item 2429863	NM_003590.5(CUL3):c.883+3_883+6del	CUL3	Deletion (splice donor variant)	Autism spectrum disorder	GUncertain significance
Select item 2184988	NM_003590.5(CUL3):c.24G>C (p.Thr8=)	CUL3, LOC129935709	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166492	NM_003590.5(CUL3):c.44A>G (p.Lys15Arg)	CUL3, LOC129935709 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909058	NM_003590.5(CUL3):c.66+16G>C	CUL3, LOC129935709	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803416	NM_003590.5(CUL3):c.17A>G (p.Lys6Arg)	CUL3, LOC129935709 (K6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394993	NM_003590.5(CUL3):c.66+5_66+10del	CUL3, LOC129935709	Deletion (intron variant)	not provided	GUncertain significance
Select item 1324195	NM_003590.5(CUL3):c.264+1G>C	CUL3	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 987403	NM_003590.5(CUL3):c.2175+1G>C	CUL3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987241	NM_003590.5(CUL3):c.883+1G>A	CUL3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987179	NM_003590.5(CUL3):c.1386del (p.Cys462fs)	CUL3 (C396fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986996	NM_003590.5(CUL3):c.805_850dup (p.Leu284fs)	CUL3 (L218fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 975531	NM_003590.5(CUL3):c.743_744dup (p.Met249Ter)	CUL3 (M183* +2 more)	Duplication (nonsense)	Intellectual disability	GLikely pathogenic
Select item 897173	NM_003590.5(CUL3):c.-51C>T	CUL3, LOC129935709	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897172	NM_003590.5(CUL3):c.-7G>A	CUL3, LOC129935709	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896709	NM_003590.5(CUL3):c.21C>T (p.Gly7=)	CUL3, LOC129935709	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 809209	GRCh37/hg19 2q36.2(chr2:225376071-225379489)x1	CUL3	Copy number loss	not provided	GUncertain significance
Select item 687250	GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3	CUL3	Copy number gain	not provided	GUncertain significance
Select item 687248	GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3	CUL3	Copy number gain	not provided	GUncertain significance
Select item 266041	NM_003590.5(CUL3):c.1377G>A (p.Lys459=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2A	GLikely pathogenic
Select item 100526	NM_003590.5(CUL3):c.1377+3A>G	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100525	NM_003590.5(CUL3):c.1377+1G>C	CUL3	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100524	NM_003590.5(CUL3):c.1377+1dup	CUL3	Duplication (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100523	NM_003590.5(CUL3):c.1376_1377+4del	CUL3	Deletion (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100522	NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg)	CUL3 (K459R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100521	NM_003590.5(CUL3):c.1236G>A (p.Leu412=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2A	GPathogenic

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Links from Gene

Items: 34