Related gene-specific medical variations for Gene (Select 3728) - ClinVar - NCBI

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

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243062	NC_000017.10:g.(?_39923611)_(39928106_?)dup	JUP	Duplication	Naxos disease +1 more	GUncertain significance
Select item 3064471	NM_002230.4(JUP):c.1694G>C (p.Gly565Ala)	JUP (G565A)	Single nucleotide variant (missense variant)	Naxos disease	GUncertain significance
Select item 1262548	NM_002230.4(JUP):c.-9+17del	JUP, LOC130060847	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1218178	NM_002230.4(JUP):c.-9+208A>G	JUP, LOC130060847	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181822	NM_002230.4(JUP):c.-9+18del	JUP, LOC130060847	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 930575	NM_002230.4(JUP):c.73_88del (p.Gly25fs)	JUP (G25fs)	Deletion (frameshift variant)	Naxos disease	GUncertain significance
Select item 892176	NM_002230.4(JUP):c.-96G>A	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 808264	NM_002230.4(JUP):c.87C>A (p.Gly29=)	JUP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 636540	NM_002230.4(JUP):c.572G>C (p.Arg191Pro)	JUP (R191P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516121	NM_002230.4(JUP):c.-9+19_-9+20del	JUP, LOC130060847	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 504089	NM_002230.4(JUP):c.-42_-27del	LOC130060847, JUP	Deletion (5 prime UTR variant)	not specified	GUncertain significance
Select item 384316	NM_002230.4(JUP):c.-9+9T>C	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 377984	NM_002230.4(JUP):c.-9+4C>G	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 323175	NM_002230.4(JUP):c.-88A>G	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 323174	NM_002230.4(JUP):c.-55C>T	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 323173	NM_002230.4(JUP):c.-51C>G	JUP, LOC130060847	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 12 +1 more	GUncertain significance
Select item 261477	NM_002230.4(JUP):c.909+49T>C	JUP	Single nucleotide variant (intron variant)	not specified	GBenign