Related gene-specific medical variations for Gene (Select 169522) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245389	NC_000009.11:g.(?_2696223)_(2718472_?)del	KCNV2	Deletion	not provided	GPathogenic
Select item 3245388	NC_000009.11:g.(?_2718171)_(2729909_?)del	KCNV2	Deletion	not provided	GPathogenic
Select item 3245387	NC_000009.11:g.(?_2717738)_(2729727_?)del	KCNV2	Deletion	not provided	GPathogenic
Select item 3065781	NM_133497.4(KCNV2):c.238G>T (p.Glu80Ter)	KCNV2 (E80*)	Single nucleotide variant (nonsense)	Cone dystrophy with supernormal rod response	GLikely pathogenic
Select item 1324610	NM_133497.4(KCNV2):c.1A>G (p.Met1Val)	KCNV2 (M1V)	Single nucleotide variant (missense variant +1 more)	Cone dystrophy with supernormal rod response	GLikely pathogenic
Select item 1184889	NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter)	KCNV2 (W247*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1048135	NC_000009.11:g.2716981_2787016del	KCNV2	Deletion	Cone dystrophy with supernormal rod response	GLikely pathogenic
Select item 986878	NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro)	KCNV2 (L404P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 978435	NM_133497.4:c.1357_1638del	KCNV2	Deletion	Cone dystrophy with supernormal rod response	GPathogenic
Select item 867120	NM_133497.4(KCNV2):c.989T>C (p.Phe330Ser)	KCNV2 (F330S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866928	NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs)	KCNV2 (C177fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866603	NM_133497.4(KCNV2):c.381del (p.Thr128fs)	KCNV2 (T128fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866459	NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly)	KCNV2 (R320G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866393	NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg)	KCNV2 (C177R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 866391	NM_133497.4(KCNV2):c.1388T>G (p.Met463Arg)	KCNV2 (M463R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866033	NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter)	KCNV2 (K215*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865987	NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter)	KCNV2 (P241*)	Indel (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 815210	GRCh37/hg19 9p24.2(chr9:2689263-2787884)x1	KCNV2	Copy number loss	not provided	GLikely benign
Select item 813186	NM_133497.4(KCNV2):c.1356+3_1356+6del	KCNV2	Deletion (splice donor variant)	Cone dystrophy	GPathogenic
Select item 375225	NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del	KCNV2	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 39813	NG_012181.1:g.5233_16321delinsCATTTG	KCNV2	Indel	Cone dystrophy with supernormal rod response	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21