ClinVar for Gene (Select 126805751) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613817	NM_001924.4(GADD45A):c.313G>A (p.Glu105Lys)	GADD45A, LOC126805751 (E105K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 784441	NM_001924.4(GADD45A):c.285G>A (p.Pro95=)	GADD45A, LOC126805751	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic