ClinVar for PubMed (Select 28492532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248526	NC_000019.9:g.(?_38973647)_(38974176_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248525	NC_000019.9:g.(?_38954043)_(38957058_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248524	NC_000019.9:g.(?_38954043)_(38955382_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248523	NC_000019.9:g.(?_38948117)_(38980103_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248522	NC_000019.9:g.(?_39066539)_(39066621_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248521	NC_000019.9:g.(?_38955259)_(38955382_?)del	RYR1	Deletion	RYR1-related disorder	GLikely pathogenic
Select item 3248520	NC_000019.9:g.(?_39077145)_(39077236_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248519	NC_000019.9:g.(?_1399127)_(1401720_?)del	GAMT	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 3248518	NC_000019.9:g.(?_4110487)_(4171966_?)dup	CREB3L3, MAP2K2	Duplication	RASopathy	GUncertain significance
Select item 3248517	NC_000019.9:g.(?_4090596)_(4171966_?)dup	CREB3L3, MAP2K2	Duplication	RASopathy	GUncertain significance
Select item 3248516	NC_000023.10:g.(?_32429849)_(32717430_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248514	NC_000019.9:g.(?_48342985)_(48346262_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 3248513	NC_000019.9:g.(?_48337701)_(48337820_?)dup	CRX	Duplication	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3248512	NC_000019.9:g.(?_48337701)_(48343224_?)dup	CRX	Duplication	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3248511	NC_000019.9:g.(?_48342557)_(48343224_?)del	CRX	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 3248510	NC_000019.9:g.(?_40913793)_(40913839_?)del	PRX	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3248509	NC_000019.9:g.(?_50332011)_(50333471_?)del	MED25	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3248508	NC_000019.9:g.(?_13474954)_(13476240_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 3248507	NC_000019.9:g.(?_13318860)_(13325442_?)dup	CACNA1A	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248505	NC_000023.10:g.(?_32481536)_(32717430_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248504	NC_000019.9:g.(?_13249921)_(13318882_?)dup	CACNA1A, IER2 +2 more	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248503	NC_000019.9:g.(?_13470400)_(13482613_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248502	NC_000019.9:g.(?_13335461)_(13342694_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248500	NC_000019.9:g.(?_13370358)_(13373667_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248499	NC_000019.9:g.(?_13409338)_(13411490_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248498	NC_000019.9:g.(?_13414350)_(13418678_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248497	NC_000019.9:g.(?_13363785)_(13363935_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248496	NC_000019.9:g.(?_13368144)_(13368385_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248495	NC_000019.9:g.(?_13386644)_(13386790_?)del	CACNA1A	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3248494	NC_000023.10:g.(?_32509374)_(32717430_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248493	NC_000019.9:g.(?_50195510)_(50195670_?)dup	CPT1C	Duplication	Hereditary spastic paraplegia 73	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 3248491	NC_000019.9:g.(?_13135448)_(13136386_?)dup	NFIX	Duplication	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 3248490	NC_000019.9:g.(?_10244343)_(10257220_?)del	DNMT1	Deletion	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3248489	NC_000019.9:g.(?_10259540)_(10305575_?)del	DNMT1	Deletion	Hereditary sensory neuropathy-deafness-dementia syndrome	GUncertain significance
Select item 3248488	NC_000019.9:g.(?_16591405)_(16593616_?)del	CALR3	Deletion	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 3248487	NC_000019.9:g.(?_50366993)_(50370363_?)del	PNKP	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	MED25, RRAS +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3248485	NC_000019.9:g.(?_50331686)_(50367680_?)del	MED25, PNKP +2 more	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3248484	NC_000019.9:g.(?_7694720)_(7712696_?)del	PCP2, PET100 +1 more	Deletion	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 3248483	NC_000023.10:g.(?_32583799)_(32717430_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248482	NC_000019.9:g.(?_11138450)_(11172492_?)dup	SMARCA4	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248481	NC_000019.9:g.(?_11094828)_(11373116_?)dup	ANGPTL8, DOCK6 +4 more	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248480	NC_000019.9:g.(?_11138450)_(11141579_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 3248479	NC_000019.9:g.(?_11118568)_(11172492_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 3248478	NC_000019.9:g.(?_11150114)_(11150249_?)del	SMARCA4	Deletion	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248477	NC_000019.9:g.(?_50903077)_(50910587_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248476	NC_000019.9:g.(?_50919077)_(50920308_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248475	NC_000019.9:g.(?_50905025)_(50906864_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248474	NC_000019.9:g.(?_50713623)_(50902761_?)dup	KCNC3, MYH14 +3 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248473	NC_000019.9:g.(?_50887648)_(50921204_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248472	NC_000023.10:g.(?_32662229)_(32756908_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248471	NC_000019.9:g.(?_50904019)_(50905638_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248470	NC_000019.9:g.(?_50905015)_(50906874_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248469	NC_000019.9:g.(?_50902109)_(50912943_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248468	NC_000019.9:g.(?_54310729)_(54318262_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248467	NC_000019.9:g.(?_54301477)_(54327428_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248466	NC_000019.9:g.(?_54297303)_(54297410_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248465	NC_000019.9:g.(?_54297303)_(54327428_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248464	NC_000019.9:g.(?_54307186)_(54327428_?)del	NLRP12	Deletion	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248463	NC_000019.9:g.(?_54307186)_(54307396_?)del	NLRP12	Deletion	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248462	NC_000019.9:g.(?_49661124)_(49675385_?)dup	TRPM4	Duplication	Progressive familial heart block type IB	GLikely benign
Select item 3248461	NC_000023.10:g.(?_31139940)_(31201031_?)del	DMD	Deletion	Duchenne muscular dystrophy	GLikely pathogenic
Select item 3248460	NC_000019.9:g.(?_49699677)_(49705418_?)del	TRPM4	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 3248459	NC_000019.9:g.(?_49684586)_(49714755_?)del	TRPM4	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248457	NC_000019.9:g.(?_10469831)_(10469998_?)del	TYK2	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248455	NC_000019.9:g.(?_49484767)_(49486114_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 3248454	NC_000019.9:g.(?_49494539)_(49494760_?)del	GYS1	Deletion	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	GPathogenic
Select item 3248453	NC_000019.9:g.(?_44011044)_(44014899_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248452	NC_000019.9:g.(?_44030333)_(44031420_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248451	NC_000019.9:g.(?_44015569)_(44015738_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic
Select item 3248450	NC_000023.10:g.(?_32756908)_(32834777_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248449	NC_000019.9:g.(?_855544)_(856164_?)del	ELANE	Deletion	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 3248448	NC_000019.9:g.(?_852329)_(853423_?)del	ELANE	Deletion	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 3248447	NC_000019.9:g.(?_55644283)_(55653308_?)del	TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 3248446	NC_000019.9:g.(?_55652231)_(55658525_?)del	TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 3248445	NC_000019.9:g.(?_10904376)_(10941723_?)dup	DNM2, MIR199A1	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248444	NC_000019.9:g.(?_10870394)_(10870507_?)dup	DNM2	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248443	NC_000019.9:g.(?_10870394)_(10941723_?)del	DNM2, MIR199A1	Deletion	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248442	NC_000019.9:g.(?_10828919)_(10829099_?)del	DNM2	Deletion	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248441	NC_000019.9:g.(?_12920865)_(12921238_?)del	RNASEH2A	Deletion	Aicardi-Goutieres syndrome 4	GPathogenic
Select item 3248440	NC_000023.10:g.(?_31332523)_(31627738_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248439	NC_000019.9:g.(?_17943332)_(17949808_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248438	NC_000019.9:g.(?_17951019)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248437	NC_000019.9:g.(?_17952429)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248436	NC_000019.9:g.(?_17948721)_(17950492_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248435	NC_000019.9:g.(?_42373081)_(42373843_?)del	RPS19	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3248434	NC_000019.9:g.(?_46056772)_(46057189_?)del	OPA3	Deletion	Optic atrophy 3 +1 more	GLikely pathogenic
Select item 3248433	NC_000019.9:g.(?_46056772)_(46088022_?)del	OPA3	Deletion	Optic atrophy 3 +1 more	GPathogenic
Select item 3248432	NC_000019.9:g.(?_51848465)_(51850332_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248431	NC_000019.9:g.(?_51850134)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248430	NC_000019.9:g.(?_51869504)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248429	NC_000023.10:g.(?_31140036)_(31676281_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 3248428	NC_000019.9:g.(?_47257002)_(47259076_?)del	FKRP	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 3248427	NC_000019.9:g.(?_7586623)_(7593055_?)del	MCOLN1	Deletion	Mucolipidosis type IV	GPathogenic

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