DENR[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3045398	NM_003677.5(DENR):c.-2A>C	DENR	Single nucleotide variant (5 prime UTR variant)	DENR-related disorder	GLikely benign
Select item 2211353	NM_003677.5(DENR):c.49C>T (p.Pro17Ser)	DENR (P17S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211368	NM_003677.5(DENR):c.62C>T (p.Ala21Val)	DENR (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044403	NM_003677.5(DENR):c.65A>C (p.Lys22Thr)	DENR (K22T)	Single nucleotide variant (missense variant)	DENR-related disorder	GLikely benign
Select item 2358077	NM_003677.5(DENR):c.76G>T (p.Asp26Tyr)	DENR (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482791	NM_003677.5(DENR):c.95T>C (p.Leu32Pro)	DENR (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797357	NM_003677.5(DENR):c.107-9C>T	DENR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2362581	NM_003677.5(DENR):c.202C>T (p.Leu68Phe)	DENR (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051717	NM_003677.5(DENR):c.264G>A (p.Gly88=)	DENR	Single nucleotide variant (synonymous variant)	DENR-related disorder	GLikely benign
Select item 2532213	NM_003677.5(DENR):c.267A>C (p.Glu89Asp)	DENR (E89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039206	NM_003677.5(DENR):c.295+6A>T	DENR	Single nucleotide variant (intron variant)	DENR-related disorder	GLikely benign
Select item 3054550	NM_003677.5(DENR):c.330C>G (p.Thr110=)	DENR	Single nucleotide variant (synonymous variant)	DENR-related disorder	GLikely benign
Select item 2327007	NM_003677.5(DENR):c.331G>A (p.Val111Ile)	DENR (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1807868	GRCh37/hg19 12q24.31(chr12:122737779-123265478)x3	CCDC62, CLIP1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527745	GRCh37/hg19 12q24.31(chr12:122938957-123747037)	ABCB9, ARL6IP4 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1328462	GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3	B3GNT4, BCL7A +25 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 34