5630[geneid] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1225705	NC_000012.12:g.49295097C>G	PRPH, TROAP-AS1	Single nucleotide variant	not provided	GBenign
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 3310392	NM_006262.4(PRPH):c.5G>C (p.Ser2Thr)	PRPH, TROAP-AS1 (S2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309369	NM_006262.4(PRPH):c.16T>C (p.Ser6Pro)	PRPH, TROAP-AS1 (S6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409916	NM_006262.4(PRPH):c.17C>T (p.Ser6Leu)	PRPH, TROAP-AS1 (S6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 736884	NM_006262.4(PRPH):c.69A>G (p.Pro23=)	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2518266	NM_006262.4(PRPH):c.104C>G (p.Ser35Trp)	PRPH, TROAP-AS1 (S35W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609206	NM_006262.4(PRPH):c.146C>T (p.Ala49Val)	PRPH, TROAP-AS1 (A49V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689831	NM_006262.4(PRPH):c.192AGCGGG[3] (p.Ala69_Leu70insGlyAla)	PRPH, TROAP-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 873306	NM_006262.4(PRPH):c.190C>T (p.Arg64Ter)	PRPH, TROAP-AS1 (R64*)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
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 1314774	NM_006262.4(PRPH):c.248C>T (p.Ala83Val)	PRPH, TROAP-AS1 (A83V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2446698	NM_006262.4(PRPH):c.256C>T (p.Leu86Phe)	PRPH, TROAP-AS1 (L86F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2500667	NM_006262.4(PRPH):c.314del (p.Asn105fs)	TROAP-AS1, PRPH (N105fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2465101	NM_006262.4(PRPH):c.326C>T (p.Ala109Val)	PRPH, TROAP-AS1 (A109V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737329	NM_006262.4(PRPH):c.352C>A (p.Leu118Met)	PRPH, TROAP-AS1 (L118M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3219218	NM_006262.4(PRPH):c.383A>T (p.Glu128Val)	PRPH, TROAP-AS1 (E128V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3310391	NM_006262.4(PRPH):c.394G>A (p.Ala132Thr)	PRPH, TROAP-AS1 (A132T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219219	NM_006262.4(PRPH):c.395C>T (p.Ala132Val)	PRPH, TROAP-AS1 (A132V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2612160	NM_006262.4(PRPH):c.416G>A (p.Arg139His)	PRPH, TROAP-AS1 (R139H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3219220	NM_006262.4(PRPH):c.457C>G (p.Arg153Gly)	PRPH, TROAP-AS1 (R153G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361367	NM_006262.4(PRPH):c.466G>C (p.Glu156Gln)	PRPH, TROAP-AS1 (E156Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219221	NM_006262.4(PRPH):c.487G>C (p.Asp163His)	PRPH, TROAP-AS1 (D163H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616536	NM_006262.4(PRPH):c.499G>A (p.Val167Met)	PRPH, TROAP-AS1 (V167M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2250714	NM_006262.4(PRPH):c.546G>C (p.Arg182Ser)	PRPH, TROAP-AS1 (R182S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1123915	NM_006262.4(PRPH):c.560C>T (p.Thr187Met)	PRPH, TROAP-AS1 (T187M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3219223	NM_006262.4(PRPH):c.578C>A (p.Ala193Glu)	PRPH, TROAP-AS1 (A193E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1333542	NM_006262.4(PRPH):c.607-1G>A	PRPH, TROAP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 3219224	NM_006262.4(PRPH):c.632G>T (p.Arg211Leu)	PRPH, TROAP-AS1 (R211L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326295	NM_006262.4(PRPH):c.644A>G (p.Glu215Gly)	PRPH, TROAP-AS1 (E215G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219225	NM_006262.4(PRPH):c.653T>C (p.Ile218Thr)	PRPH, TROAP-AS1 (I218T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389547	NM_006262.4(PRPH):c.667G>A (p.Asp223Asn)	PRPH, TROAP-AS1 (D223N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342829	NM_006262.4(PRPH):c.697G>A (p.Glu233Lys)	PRPH, TROAP-AS1 (E233K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 1231555	NM_006262.4(PRPH):c.703-163T>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 2495470	NM_006262.4(PRPH):c.724A>G (p.Ser242Gly)	PRPH, TROAP-AS1 (S242G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317123	NM_006262.4(PRPH):c.799G>A (p.Asp267Asn)	PRPH, TROAP-AS1 (D267N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642969	NM_006262.4(PRPH):c.807C>T (p.Arg269=)	TROAP-AS1, PRPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1050072	NM_006262.4(PRPH):c.860A>G (p.Tyr287Cys)	PRPH, TROAP-AS1 (Y287C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3219226	NM_006262.4(PRPH):c.917G>T (p.Arg306Leu)	LOC124629354, PRPH +1 more (R306L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3234975	NM_006262.4(PRPH):c.919C>T (p.Gln307Ter)	LOC124629354, PRPH +1 more (Q307*)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2581998	NM_006262.4(PRPH):c.931G>C (p.Glu311Gln)	LOC124629354, PRPH +1 more (E311Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 425005	NM_006262.4(PRPH):c.996+1G>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 2391378	NM_006262.4(PRPH):c.1009C>T (p.Leu337Phe)	LOC124629354, PRPH +1 more (L337F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481727	NM_006262.4(PRPH):c.1064A>C (p.Gln355Pro)	LOC124629354, PRPH +1 more (Q355P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241577	NM_006262.4(PRPH):c.1079G>T (p.Arg360Leu)	LOC124629354, PRPH +1 more (R360L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3310393	NM_006262.4(PRPH):c.1087G>A (p.Glu363Lys)	LOC124629354, PRPH +1 more (E363K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 734097	NM_006262.4(PRPH):c.1104A>G (p.Leu368=)	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 2218430	NM_006262.4(PRPH):c.1190G>T (p.Arg397Leu)	LOC124629354, PRPH +1 more (R397L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1801688	NM_006262.4(PRPH):c.1235A>C (p.His412Pro)	TROAP-AS1, LOC124629354 +1 more (H412P)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 66711	NM_006262.4(PRPH):c.1267+58T>C	PRPH, TROAP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296124	NM_006262.4(PRPH):c.1268-34T>C	PRPH, TROAP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281243	NM_006262.4(PRPH):c.1303C>T (p.Arg435Trp)	PRPH, TROAP-AS1 (R435W)	Single nucleotide variant (missense 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 1305199	NM_006262.4(PRPH):c.1376G>A (p.Arg459His)	PRPH, TROAP-AS1 (R459H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66702	NM_006262.4(PRPH):c.*82C>A	PRPH, TROAP-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 3251556	NC_000012.11:g.(?_49688929)_(49691361_49691459)dup	PRPH	Duplication	not specified	GBenign
Select item 2637522	NC_000012.11:g.(?_49688929)_(49691510_49691740)dup	PRPH	Duplication	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 979966	GRCh37/hg19 12q13.12(chr12:49584942-49910016)x3	PRPH, DNAJC22 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394537	GRCh37/hg19 12q13.12(chr12:49667030-49692424)x1	PRPH, TUBA1C	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 86