Related gene-specific medical variations for Gene (Select 55784) - ClinVar

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

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499633	GRCh38/hg38 15q26.2(chr15:94302663-94352488)	MCTP2	Copy number loss	See cases	GUncertain significance
Select item 1808295	GRCh37/hg19 15q26.2(chr15:94942904-95041259)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 1340173	GRCh37/hg19 15q26.2(chr15:94991253-95073638)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 980642	GRCh37/hg19 15q26.2(chr15:94814176-94861302)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 815751	GRCh37/hg19 15q26.2(chr15:94884502-94913528)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 815750	GRCh37/hg19 15q26.2(chr15:94579585-94873110)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 685827	GRCh37/hg19 15q26.2(chr15:94848894-94866975)x1	MCTP2	Copy number loss	not provided	GUncertain significance
Select item 446339	GRCh37/hg19 15q26.2(chr15:94818923-95388951)x3	MCTP2	Copy number gain	See cases	GUncertain significance
Select item 394391	GRCh37/hg19 15q26.1-26.2(chr15:93863225-95137063)x3	MCTP2	Copy number gain	See cases	GUncertain significance
Select item 146367	GRCh38/hg38 15q26.2(chr15:94324551-94470012)x1	MCTP2	Copy number loss	See cases	GLikely benign