"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66704	NM_006262.4(PRPH):c.-24G>C	PRPH, TROAP-AS1	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)	not provided +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 +1 more	GBenign/Likely 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)	PRPH-related disorder +2 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	PRPH, TROAP-AS1	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 +1 more	GBenign/Likely 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)	PRPH-related disorder +1 more	GBenign/Likely 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

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Items: 24