RFPL3S[gene] - ClinVar

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Items: 42

	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 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 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 2465225	NM_001098535.1(RFPL3):c.379A>G (p.Met127Val)	RFPL3, RFPL3S (M127V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406024	NM_001098535.1(RFPL3):c.398C>G (p.Thr133Arg)	RFPL3, RFPL3S (T104R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409678	NM_001098535.1(RFPL3):c.472G>T (p.Asp158Tyr)	RFPL3, RFPL3S (D129Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2261554	NM_001098535.1(RFPL3):c.481G>A (p.Glu161Lys)	RFPL3, RFPL3S (E161K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376411	NM_001098535.1(RFPL3):c.499G>A (p.Val167Ile)	RFPL3, RFPL3S (V138I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2469855	NM_001098535.1(RFPL3):c.521G>A (p.Arg174His)	RFPL3, RFPL3S (R145H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405087	NM_001098535.1(RFPL3):c.607T>C (p.Cys203Arg)	RFPL3, RFPL3S (C203R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2364631	NM_001098535.1(RFPL3):c.662G>C (p.Arg221Thr)	RFPL3, RFPL3S (R192T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527054	NM_001098535.1(RFPL3):c.670A>G (p.Ser224Gly)	RFPL3, RFPL3S (S195G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3153414	NM_001098535.1(RFPL3):c.673C>T (p.Arg225Cys)	RFPL3, RFPL3S (R225C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153415	NM_001098535.1(RFPL3):c.686G>C (p.Ser229Thr)	RFPL3, RFPL3S (S229T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313884	NM_001098535.1(RFPL3):c.689C>T (p.Thr230Met)	RFPL3, RFPL3S (T230M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366163	NM_001098535.1(RFPL3):c.689C>G (p.Thr230Arg)	RFPL3, RFPL3S (T230R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2289413	NM_001098535.1(RFPL3):c.694C>T (p.Pro232Ser)	RFPL3, RFPL3S (P203S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2277355	NM_001098535.1(RFPL3):c.718C>T (p.Arg240Cys)	RFPL3, RFPL3S (R211C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313885	NM_001098535.1(RFPL3):c.721A>G (p.Lys241Glu)	RFPL3, RFPL3S (K212E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2618180	NM_001098535.1(RFPL3):c.722A>G (p.Lys241Arg)	RFPL3, RFPL3S (K212R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2310602	NM_001098535.1(RFPL3):c.776T>C (p.Phe259Ser)	RFPL3, RFPL3S (F259S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153417	NM_001098535.1(RFPL3):c.817G>A (p.Val273Ile)	RFPL3, RFPL3S (V244I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2456041	NM_001098535.1(RFPL3):c.859A>G (p.Ile287Val)	RFPL3, RFPL3S (I258V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2375666	NM_001098535.1(RFPL3):c.914G>A (p.Gly305Asp)	RFPL3, RFPL3S (G305D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2422938	NC_000022.10:g.(?_32500753)_(32894517_?)dup	BPIFC, C22orf42 +7 more	Duplication	Congenital glucose-galactose malabsorption	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 1411277	NC_000022.10:g.(?_32232938)_(34157463_?)dup	BPIFC, C22orf42 +13 more	Duplication	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 687195	GRCh37/hg19 22q12.3(chr22:32748700-32845239)x1	BPIFC, RFPL3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686476	GRCh37/hg19 22q12.3(chr22:32468505-32780333)x3	C22orf42, RFPL2 +4 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 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	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: 42