C4316870[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438058	NM_001377295.2(GNAT2):c.906C>A (p.Tyr302Ter)	GNAT2 (Y302*)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 438155	NM_001298.3(CNGA3):c.107_110del (p.His36fs)	CNGA3 (H36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 265467	NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	CNGA3 (R563H +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +2 more	GPathogenic/Likely pathogenic
Select item 437938	NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)	IMPG2 (Y560*)	Single nucleotide variant (nonsense)	Abnormality of the eye +1 more	GPathogenic
Select item 438231	NM_001134831.2(AHI1):c.1912+1488_2036+506del	AHI1	Deletion (splice acceptor variant +1 more)	Abnormality of the eye	GLikely pathogenic
Select item 438042	NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	CNGB3 (R604*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 427658	NM_019098.5(CNGB3):c.1285del (p.Ser429fs)	CNGB3 (S429fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 95840	NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)	VPS13B (S864*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95847	NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)	VPS13B (D1210Y)	Single nucleotide variant (missense variant)	Cohen syndrome +1 more	GUncertain significance
Select item 242548	NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)	VPS13B (M2099fs +1 more)	Deletion (frameshift variant)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 438256	NM_017662.5(TRPM6):c.2920-806_3404-1965del	TRPM6	Deletion (splice acceptor variant +1 more)	Hypomagnesemia +2 more	GLikely pathogenic
Select item 438114	NM_006744.4(RBP4):c.248+1G>A	RBP4	Single nucleotide variant (splice donor variant)	Abnormality of the eye	GLikely pathogenic
Select item 437986	NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	TYR (G346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 208566	NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)	CACNA2D4 (R628*)	Single nucleotide variant (nonsense)	Retinal cone dystrophy 4 +1 more	GConflicting classifications of pathogenicity
Select item 438161	NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)	RPGRIP1 (E800K +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis +2 more	GPathogenic
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +4 more	GPathogenic
Select item 438227	NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)	NR2E3 (A102D)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GConflicting classifications of pathogenicity
Select item 433350	NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)	ABCC6 (D1254fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GPathogenic
Select item 6569	NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	ABCC6 (T1130M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438056	NM_001378477.3(NYX):c.921C>G (p.Asn307Lys)	NYX (N312K +1 more)	Single nucleotide variant (missense variant)	Abnormality of the eye	GLikely pathogenic
Select item 437945	NM_006915.3(RP2):c.43del (p.Ser15fs)	LOC130068202, RP2 (S15fs)	Deletion (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 438125	NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter)	CACNA1F (Q1210* +2 more)	Single nucleotide variant (nonsense)	Abnormality of the eye	GLikely pathogenic
Select item 438064	NM_000390.4(CHM):c.315-1536A>G	CHM	Single nucleotide variant (intron variant)	Choroideremia +2 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24