ClinVar for Gene (Select 51493) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315619	NM_014306.5(RTCB):c.997G>T (p.Ala333Ser)	RTCB (A333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315618	NM_014306.5(RTCB):c.17A>T (p.Asn6Ile)	RTCB (N6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315617	NM_014306.5(RTCB):c.293A>G (p.Asn98Ser)	RTCB (N98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315616	NM_014306.5(RTCB):c.301G>A (p.Ala101Thr)	RTCB (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315615	NM_014306.5(RTCB):c.881C>T (p.Ala294Val)	RTCB (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315613	NM_014306.5(RTCB):c.886G>A (p.Ala296Thr)	RTCB (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156806	NM_014306.5(RTCB):c.899C>T (p.Ser300Phe)	RTCB (S300F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156805	NM_014306.5(RTCB):c.722A>G (p.Tyr241Cys)	RTCB (Y241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156804	NM_014306.5(RTCB):c.655T>C (p.Leu219=)	RTCB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3156803	NM_014306.5(RTCB):c.487A>G (p.Met163Val)	RTCB (M163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156802	NM_014306.5(RTCB):c.1235T>C (p.Leu412Pro)	RTCB (L412P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156801	NM_014306.5(RTCB):c.1133C>T (p.Thr378Ile)	RTCB (T378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609263	NM_014306.5(RTCB):c.571G>C (p.Glu191Gln)	RTCB (E191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567382	NM_014306.5(RTCB):c.1079A>G (p.Gln360Arg)	RTCB (Q360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492260	NM_014306.5(RTCB):c.1114G>A (p.Val372Ile)	RTCB (V372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476953	NM_014306.5(RTCB):c.634A>G (p.Lys212Glu)	RTCB (K212E)	Single nucleotide variant (missense variant)	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 2396047	NM_014306.5(RTCB):c.997G>A (p.Ala333Thr)	RTCB (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390236	NM_014306.5(RTCB):c.1364T>C (p.Met455Thr)	RTCB (M455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337167	NM_014306.5(RTCB):c.976T>C (p.Phe326Leu)	RTCB (F326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335179	NM_014306.5(RTCB):c.378G>C (p.Leu126Phe)	RTCB (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313670	NM_014306.5(RTCB):c.1470C>G (p.Ile490Met)	RTCB (I490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299230	NM_014306.5(RTCB):c.1102C>T (p.Arg368Trp)	RTCB (R368W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295798	NM_014306.5(RTCB):c.859A>G (p.Ile287Val)	RTCB (I287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289415	NM_014306.5(RTCB):c.1033C>A (p.Leu345Ile)	RTCB (L345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266651	NM_014306.5(RTCB):c.170G>A (p.Gly57Asp)	RTCB (G57D)	Single nucleotide variant (missense variant)	not specified	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 786379	NM_014306.5(RTCB):c.828T>C (p.Ala276=)	RTCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782754	NM_014306.5(RTCB):c.1041G>C (p.Val347=)	RTCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687195	GRCh37/hg19 22q12.3(chr22:32748700-32845239)x1	BPIFC, RFPL3 +2 more	Copy number loss	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
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 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

ClinVar

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Links from Gene

Items: 47