"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - 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 66704	NM_006262.4(PRPH):c.-24G>C	TROAP-AS1, PRPH	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 66703	NM_006262.4(PRPH):c.-23G>C	PRPH, TROAP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided
Select item 66714	NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)	PRPH, TROAP-AS1 (R9Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GBenign
Select item 66720	NM_006262.4(PRPH):c.63C>T (p.Phe21=)	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66713	NM_006262.4(PRPH):c.229del (p.Arg77fs)	PRPH, TROAP-AS1 (R77fs)	Deletion (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis, susceptibility to	Grisk factor
Select item 66715	NM_006262.4(PRPH):c.398G>C (p.Arg133Pro)	PRPH, TROAP-AS1 (R133P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 13707	NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)	PRPH, TROAP-AS1 (D141Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 66716	NM_006262.4(PRPH):c.545+69G>C	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 66717	NM_006262.4(PRPH):c.547T>C (p.Leu183=)	TROAP-AS1, PRPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66718	NM_006262.4(PRPH):c.606+52T>G	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66719	NM_006262.4(PRPH):c.607-77A>C	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66721	NM_006262.4(PRPH):c.702+27T>C	TROAP-AS1, PRPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 66722	NM_006262.4(PRPH):c.703-13C>T	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66723	NM_006262.4(PRPH):c.829G>A (p.Ala277Thr)	PRPH, TROAP-AS1 (A277T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66724	NM_006262.4(PRPH):c.870+12G>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66705	NM_006262.4(PRPH):c.1083C>G (p.Leu361=)	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66706	NM_006262.4(PRPH):c.1107A>G (p.Lys369=)	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 66707	NM_006262.4(PRPH):c.1108G>A (p.Glu370Lys)	LOC124629354, PRPH +1 more (E370K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66708	NM_006262.4(PRPH):c.1217+27C>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66709	NM_006262.4(PRPH):c.1217+34G>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 66710	NM_006262.4(PRPH):c.1217+43C>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 66711	NM_006262.4(PRPH):c.1267+58T>C	PRPH, TROAP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66712	NM_006262.4(PRPH):c.1348-36dup	PRPH, TROAP-AS1	Duplication (intron variant)	not provided	Gnot provided
Select item 66702	NM_006262.4(PRPH):c.*82C>A	PRPH, TROAP-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided

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