Related gene-specific medical variations for Gene (Select 813) - ClinVar

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2959357	NM_001385125.1(OPN1SW):c.973G>A (p.Asp325Asn)	CALU, OPN1SW (D325N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873828	NM_001385125.1(OPN1SW):c.965A>C (p.Asp322Ala)	CALU, OPN1SW (D322A)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2854845	NM_001385125.1(OPN1SW):c.1014G>A (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2793916	NM_001385125.1(OPN1SW):c.919-19A>G	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2711318	NM_001385125.1(OPN1SW):c.1011C>T (p.Val337=)	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2430106	NM_001219.5(CALU):c.700C>T (p.Arg234Ter)	CALU (R234* +1 more)	Single nucleotide variant (nonsense +2 more)	Developmental disorder	GLikely pathogenic
Select item 2350167	NM_001385125.1(OPN1SW):c.925G>C (p.Ala309Pro)	CALU, OPN1SW (A309P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2240721	NM_001385125.1(OPN1SW):c.1012T>C (p.Ser338Pro)	CALU, OPN1SW (S338P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2115402	NM_001385125.1(OPN1SW):c.1028G>A (p.Gly343Asp)	CALU, OPN1SW (G343D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2100880	NM_001385125.1(OPN1SW):c.973G>C (p.Asp325His)	CALU, OPN1SW (D325H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1905900	NM_001385125.1(OPN1SW):c.966T>C (p.Asp322=)	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1624922	NM_001385125.1(OPN1SW):c.919-18T>C	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1583167	NM_001385125.1(OPN1SW):c.923A>G (p.Gln308Arg)	CALU, OPN1SW (Q308R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1509895	NM_001385125.1(OPN1SW):c.1034A>G (p.Asn345Ser)	CALU, OPN1SW (N345S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1485779	NM_001385125.1(OPN1SW):c.932T>A (p.Ile311Asn)	CALU, OPN1SW (I311N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1478085	NM_001385125.1(OPN1SW):c.986C>A (p.Ser329Tyr)	CALU, OPN1SW (S329Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1398261	NM_001385125.1(OPN1SW):c.924A>G (p.Gln308=)	OPN1SW, CALU	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1396418	NM_001385125.1(OPN1SW):c.946T>G (p.Cys316Gly)	OPN1SW, CALU (C316G)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1395268	NM_001385125.1(OPN1SW):c.935T>G (p.Met312Arg)	CALU, OPN1SW (M312R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1373650	NM_001385125.1(OPN1SW):c.922C>T (p.Gln308Ter)	CALU, OPN1SW (Q308*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1357380	NM_001385125.1(OPN1SW):c.960G>A (p.Met320Ile)	CALU, OPN1SW (M320I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1167587	NM_001385125.1(OPN1SW):c.1014G>T (p.Ser338=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1160419	NM_001385125.1(OPN1SW):c.972C>T (p.Ser324=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130650	NM_001385125.1(OPN1SW):c.996A>C (p.Thr332=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130035	NM_001385125.1(OPN1SW):c.919-10T>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1121794	NM_001385125.1(OPN1SW):c.919-8C>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1116696	NM_001385125.1(OPN1SW):c.1008T>G (p.Thr336=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1077815	NM_001385125.1(OPN1SW):c.978A>G (p.Thr326=)	CALU, OPN1SW	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1036080	NM_001385125.1(OPN1SW):c.1004C>T (p.Ser335Phe)	CALU, OPN1SW (S335F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 858901	NM_001219.5(CALU):c.*3479A>G	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 852775	NM_001219.5(CALU):c.*3404G>A	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 836919	NM_001219.5(CALU):c.*3435T>C	CALU, OPN1SW	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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: 32