ClinVar for Gene (Select 102465480) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2907481	NM_030973.4(MED25):c.1316+14_1316+15del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2763010	NM_030973.4(MED25):c.1317-19C>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2757541	NM_030973.4(MED25):c.1316+20G>A	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2737124	NM_030973.4(MED25):c.1316+23del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 2727347	NM_030973.4(MED25):c.1316+12T>C	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2028766	NM_030973.4(MED25):c.1317-20T>C	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1977810	NM_030973.4(MED25):c.1316+1G>A	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1952883	NM_030973.4(MED25):c.1316+8A>G	MED25, MIR6800	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1625077	NM_030973.4(MED25):c.1316+19C>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1544792	NM_030973.4(MED25):c.1316+20G>C	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1166549	NM_030973.4(MED25):c.1317-3del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 1119314	NM_030973.4(MED25):c.1317-9C>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1061863	NM_030973.4(MED25):c.1317-3C>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 917045	NM_030973.4(MED25):c.1317-16del	MED25, MIR6800	Deletion (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 658924	NM_030973.4(MED25):c.1314C>G (p.Asn438Lys)	MED25, MIR6800 (N438K)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 476800	NM_030973.4(MED25):c.1317-8G>T	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 476799	NM_030973.4(MED25):c.1317-8G>A	MED25, MIR6800	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic