RFPL1S[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2210126	NM_021026.2(RFPL1):c.125T>C (p.Val42Ala)	RFPL1, RFPL1S (V13A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2231247	NM_021026.2(RFPL1):c.152T>G (p.Met51Arg)	RFPL1, RFPL1S (M51R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550242	NM_021026.2(RFPL1):c.167G>A (p.Gly56Glu)	RFPL1, RFPL1S (G27E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153390	NM_021026.2(RFPL1):c.193A>G (p.Asn65Asp)	RFPL1, RFPL1S (N65D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153391	NM_021026.2(RFPL1):c.229C>A (p.Leu77Ile)	RFPL1, RFPL1S (L48I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313875	NM_021026.2(RFPL1):c.260A>G (p.Lys87Arg)	RFPL1, RFPL1S (K58R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153392	NM_021026.2(RFPL1):c.352C>T (p.Pro118Ser)	RFPL1, RFPL1S (P89S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313874	NM_021026.2(RFPL1):c.383C>T (p.Thr128Ile)	RFPL1, RFPL1S (T128I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263610	NM_021026.2(RFPL1):c.412C>T (p.Leu138Phe)	RFPL1, RFPL1S (L138F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153393	NM_021026.2(RFPL1):c.482A>C (p.Glu161Ala)	RFPL1, RFPL1S (E132A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313872	NM_021026.2(RFPL1):c.499A>G (p.Ile167Val)	RFPL1, RFPL1S (I138V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2278699	NM_021026.2(RFPL1):c.535C>T (p.Arg179Cys)	RFPL1, RFPL1S (R150C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153394	NM_021026.2(RFPL1):c.536G>A (p.Arg179His)	RFPL1, RFPL1S (R150H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153395	NM_021026.2(RFPL1):c.637C>T (p.Arg213Cys)	RFPL1, RFPL1S (R213C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226574	NM_021026.2(RFPL1):c.638G>A (p.Arg213His)	RFPL1, RFPL1S (R213H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2544701	NM_021026.2(RFPL1):c.652G>A (p.Val218Met)	RFPL1, RFPL1S (V189M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153396	NM_021026.2(RFPL1):c.722A>C (p.Lys241Thr)	RFPL1, RFPL1S (K212T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153397	NM_021026.2(RFPL1):c.838C>A (p.His280Asn)	RFPL1, RFPL1S (H280N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153398	NM_021026.2(RFPL1):c.847T>C (p.Phe283Leu)	RFPL1, RFPL1S (F254L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3153399	NM_021026.2(RFPL1):c.863C>T (p.Pro288Leu)	RFPL1, RFPL1S (P259L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313873	NM_021026.2(RFPL1):c.877A>G (p.Lys293Glu)	RFPL1, RFPL1S (K264E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153400	NM_021026.2(RFPL1):c.880A>C (p.Ser294Arg)	RFPL1, RFPL1S (S265R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153401	NM_021026.2(RFPL1):c.910C>G (p.Pro304Ala)	RFPL1, RFPL1S (P304A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603535	NM_021026.2(RFPL1):c.925G>A (p.Ala309Thr)	RFPL1, RFPL1S (A280T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3247149	NC_000022.10:g.(?_29621477)_(30035211_?)del	AP1B1, EMID1 +10 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	AP1B1, C22orf31 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 686132	GRCh37/hg19 22q12.2(chr22:29833216-29891274)x3	NEFH, RFPL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 56