"KCNV2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100603	NM_133497.4(KCNV2):c.-2C>T	KCNV2	Single nucleotide variant (5 prime UTR variant)	KCNV2-related disorder	GLikely benign
Select item 193487	NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys)	KCNV2 (E20K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 143162	NM_133497.4(KCNV2):c.80G>A (p.Arg27His)	KCNV2 (R27H)	Single nucleotide variant (missense variant)	KCNV2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 914190	NM_133497.4(KCNV2):c.258C>G (p.Pro86=)	KCNV2	Single nucleotide variant (synonymous variant)	Cone dystrophy with supernormal rod response +2 more	GConflicting classifications of pathogenicity
Select item 1153340	NM_133497.4(KCNV2):c.270C>T (p.Ser90=)	KCNV2	Single nucleotide variant (synonymous variant)	KCNV2-related disorder +1 more	GLikely benign
Select item 438151	NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg)	KCNV2 (W188R)	Single nucleotide variant (missense variant)	KCNV2-related disorder	GLikely pathogenic
Select item 1143412	NM_133497.4(KCNV2):c.618G>C (p.Arg206=)	KCNV2	Single nucleotide variant (synonymous variant)	KCNV2-related disorder +1 more	GLikely benign
Select item 498304	NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)	KCNV2 (K215N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1167900	NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)	KCNV2 (I216T)	Single nucleotide variant (missense variant)	KCNV2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 776403	NM_133497.4(KCNV2):c.654C>T (p.His218=)	KCNV2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 389005	NM_133497.4(KCNV2):c.920T>G (p.Met307Arg)	KCNV2 (M307R)	Single nucleotide variant (missense variant)	KCNV2-related disorder +2 more	GBenign/Likely benign
Select item 2077711	NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)	KCNV2 (D339N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914727	NM_133497.4(KCNV2):c.1026C>T (p.Ala342=)	KCNV2	Single nucleotide variant (synonymous variant)	Cone dystrophy with supernormal rod response +2 more	GBenign/Likely benign
Select item 1123164	NM_133497.4(KCNV2):c.1182C>T (p.Ser394=)	KCNV2	Single nucleotide variant (synonymous variant)	KCNV2-related disorder +1 more	GLikely benign
Select item 913137	NM_133497.4(KCNV2):c.1308G>A (p.Val436=)	KCNV2	Single nucleotide variant (synonymous variant)	Cone dystrophy with supernormal rod response +2 more	GBenign/Likely benign
Select item 1091309	NM_133497.4(KCNV2):c.1341C>T (p.Ser447=)	KCNV2	Single nucleotide variant (synonymous variant)	KCNV2-related disorder +1 more	GLikely benign
Select item 1367585	NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)	KCNV2 (G461*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 37247	NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	KCNV2 (G461R)	Single nucleotide variant (missense variant)	Nystagmus +5 more	GPathogenic/Likely pathogenic
Select item 3046968	NM_133497.4(KCNV2):c.*5T>C	KCNV2	Single nucleotide variant (3 prime UTR variant)	KCNV2-related disorder	GLikely benign