RBCK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 151035	GRCh38/hg38 20p13(chr20:102451-458699)x3	C20orf96, DEFB126 +34 more	Copy number gain	See cases	GLikely benign
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 150978	GRCh38/hg38 20p13(chr20:295139-500987)x1	CSNK2A1, LOC116286198 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1256790	NC_000020.11:g.408274G>C	RBCK1	Single nucleotide variant	not provided	GBenign
Select item 1255114	NM_031229.4(RBCK1):c.-122G>A	RBCK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 645870	NC_000020.10:g.(?_389363)_(411094_?)dup	LOC130065264, RBCK1	Duplication	Polyglucosan body myopathy type 1	GUncertain significance
Select item 451494	NM_031229.4(RBCK1):c.-9C>A	RBCK1 (A4D)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1 +1 more	GUncertain significance
Select item 659799	NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly)	RBCK1 (D2G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2044661	NM_031229.4(RBCK1):c.12G>A (p.Lys4=)	RBCK1 (D11N)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1933621	NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)	RBCK1 (E13G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1477399	NM_031229.4(RBCK1):c.21A>G (p.Lys7=)	RBCK1 (R14G)	Single nucleotide variant (non-coding transcript variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2074469	NM_031229.4(RBCK1):c.22+11G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2121597	NM_031229.4(RBCK1):c.22+17G>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1185505	NM_031229.4(RBCK1):c.22+33C>T	RBCK1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1248880	NM_031229.4(RBCK1):c.23-215A>T	RBCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 836849	NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)	RBCK1 (E10Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1 +1 more	GUncertain significance
Select item 1032921	NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)	RBCK1 (S14N)	Single nucleotide variant (missense variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2105689	NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)	RBCK1 (R34* +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Polyglucosan body myopathy type 1	GPathogenic
Select item 858404	NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)	RBCK1 (R17Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 451426	NM_031229.4(RBCK1):c.59C>T (p.Ala20Val)	RBCK1 (A20V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 721670	NM_031229.4(RBCK1):c.63C>T (p.Gly21=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1390342	NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)	RBCK1 (G22R)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 966016	NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu)	RBCK1 (D23E)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 998956	NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)	RBCK1 (E24A)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1437853	NM_031229.4(RBCK1):c.82A>G (p.Met28Val)	RBCK1 (M28V)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2051100	NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)	RBCK1 (I32V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1569045	NM_031229.4(RBCK1):c.100C>T (p.Leu34=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 570669	NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln)	RBCK1 (R38Q)	Single nucleotide variant (missense variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 140624	NM_031229.4(RBCK1):c.121_122del (p.Leu41fs)	RBCK1 (L41fs)	Deletion (5 prime UTR variant +3 more)	Polyglucosan body myopathy 1 with immunodeficiency	GPathogenic
Select item 1540171	NM_031229.4(RBCK1):c.132A>G (p.Gln44=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 647257	NM_031229.4(RBCK1):c.132A>T (p.Gln44His)	RBCK1 (Q44H)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1964187	NM_031229.4(RBCK1):c.141T>C (p.Pro47=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1443048	NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala)	RBCK1 (E48A)	Single nucleotide variant (missense variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 475182	NM_031229.4(RBCK1):c.144G>A (p.Glu48=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 964425	NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)	RBCK1 (V49A)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2908896	NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)	RBCK1 (S67F +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 725378	NM_031229.4(RBCK1):c.150C>T (p.Ser50=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1 +2 more	GBenign/Likely benign
Select item 1045915	NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)	RBCK1 (T52A)	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2140297	NM_031229.4(RBCK1):c.156G>A (p.Thr52=)	RBCK1	Single nucleotide variant (5 prime UTR variant +3 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1395578	NM_031229.4(RBCK1):c.167+3G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2413275	NM_031229.4(RBCK1):c.167+9T>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2998767	NM_031229.4(RBCK1):c.167+10G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2628288	NM_031229.4(RBCK1):c.167+356T>C	RBCK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628148	NM_031229.4(RBCK1):c.167+501C>T	RBCK1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1185507	NM_031229.4(RBCK1):c.168-242C>T	RBCK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1231078	NM_031229.4(RBCK1):c.168-130TG[13]	RBCK1	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 2810743	NM_031229.4(RBCK1):c.168-20G>A	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1169162	NM_031229.4(RBCK1):c.168-20G>T	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GBenign
Select item 2032006	NM_031229.4(RBCK1):c.168-14G>C	RBCK1	Single nucleotide variant (intron variant)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2957314	NM_031229.4(RBCK1):c.169C>T (p.Leu57=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1119916	NM_031229.4(RBCK1):c.171G>A (p.Leu57=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 642015	NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser)	RBCK1 (W16S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 652744	NM_031229.4(RBCK1):c.175G>C (p.Val59Leu)	RBCK1 (V59L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 475183	NM_031229.4(RBCK1):c.180C>T (p.Ser60=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 570191	NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)	RBCK1 (E62V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2892225	NM_031229.4(RBCK1):c.186G>A (p.Glu62=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 576890	NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala)	RBCK1 (T68A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 541948	NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)	RBCK1 (T68I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 756482	NM_031229.4(RBCK1):c.204C>T (p.Thr68=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1516075	NM_031229.4(RBCK1):c.205G>C (p.Val69Leu)	RBCK1 (V27L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1059496	NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)	RBCK1 (V27I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1978218	NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)	RBCK1 (T70I +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2095970	NM_031229.4(RBCK1):c.222A>T (p.Thr74=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 837748	NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)	RBCK1 (R34C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 2153339	NM_031229.4(RBCK1):c.227G>A (p.Arg76His)	RBCK1 (R34H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1520020	NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro)	RBCK1 (R34P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1132651	NM_031229.4(RBCK1):c.228C>G (p.Arg76=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 2866426	NM_031229.4(RBCK1):c.240A>G (p.Thr80=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GLikely benign
Select item 1475861	NM_031229.4(RBCK1):c.242T>C (p.Val81Ala)	RBCK1 (V39A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 1355572	NM_031229.4(RBCK1):c.245C>T (p.Ala82Val)	RBCK1 (A40V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1	GUncertain significance
Select item 541951	NM_031229.4(RBCK1):c.246G>A (p.Ala82=)	RBCK1	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1 +1 more	GLikely benign
Select item 947152	NM_031229.4(RBCK1):c.256G>C (p.Asp86His)	RBCK1 (D86H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Polyglucosan body myopathy type 1 +1 more	GUncertain significance
Select item 541949	NM_031229.4(RBCK1):c.261+6_261+9del	RBCK1	Microsatellite (splice donor variant)	Polyglucosan body myopathy type 1	GUncertain significance

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