ClinVar for PubMed (Select 16199547) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341074	NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]			Fanconi anemia complementation group A	GPathogenic
Select item 3338319	NM_001384140.1(PCDH15):c.[3661C>T];[3717+1G>A]			Autosomal recessive nonsyndromic hearing loss 23	GPathogenic
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 3248509	NC_000019.9:g.(?_50332011)_(50333471_?)del	MED25	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3248439	NC_000019.9:g.(?_17943332)_(17949808_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248402	NC_000019.9:g.(?_12758358)_(12759516_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3248394	NC_000019.9:g.(?_11212605)_(11217283_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248393	NC_000019.9:g.(?_11230813)_(11235085_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248349	NC_000020.10:g.(?_13780796)_(13782242_?)del	NDUFAF5	Deletion	not provided	GLikely pathogenic
Select item 3248306	NC_000020.10:g.(?_62324287)_(62324806_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248305	NC_000020.10:g.(?_62316041)_(62319096_?)del	RTEL1	Deletion	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely pathogenic
Select item 3248296	NC_000020.10:g.(?_8661338)_(8678351_?)del	PLCB1	Deletion	Developmental and epileptic encephalopathy, 12	GLikely pathogenic
Select item 3248213	NC_000021.8:g.(?_46923350)_(46925317_?)del	COL18A1	Deletion	not provided	GLikely pathogenic
Select item 3248199	NC_000021.8:g.(?_47831936)_(47864564_?)del	PCNT	Deletion	not provided	GLikely pathogenic
Select item 3248198	NC_000021.8:g.(?_47831918)_(47849884_?)del	PCNT	Deletion	not provided	GLikely pathogenic
Select item 3248197	NC_000021.8:g.(?_47801713)_(47806749_?)del	PCNT	Deletion	not provided	GLikely pathogenic
Select item 3248178	NC_000021.8:g.(?_34720267)_(34721595_?)del	IFNAR1	Deletion	not provided	GLikely pathogenic
Select item 3248175	NC_000021.8:g.(?_47545204)_(47546372_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248166	NC_000021.8:g.(?_47405667)_(47407547_?)del	COL6A1	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248162	NC_000021.8:g.(?_38859534)_(38868543_?)del	DYRK1A	Deletion	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 3248132	NC_000022.10:g.(?_50657893)_(50664226_?)del	TUBGCP6	Deletion	not provided	GLikely pathogenic
Select item 3248125	NC_000022.10:g.(?_50518239)_(50518795_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248092	NC_000001.10:g.(?_216219884)_(216227803_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248091	NC_000001.10:g.(?_216461143)_(216465592_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248088	NC_000001.10:g.(?_216049419)_(216051126_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248087	NC_000001.10:g.(?_216536920)_(216538298_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248086	NC_000001.10:g.(?_216173777)_(216176014_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248082	NC_000001.10:g.(?_216373331)_(216375317_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248065	NC_000001.10:g.(?_216464357)_(216538407_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248031	NC_000001.10:g.(?_211186121)_(211192575_?)del	KCNH1	Deletion	not provided	GUncertain significance
Select item 3247983	NC_000001.10:g.(?_169446833)_(169454047_?)del	SLC19A2	Deletion	not provided	GPathogenic
Select item 3247969	NC_000001.10:g.(?_22176581)_(22177305_?)del	HSPG2	Deletion	not provided	GLikely pathogenic
Select item 3247932	NC_000001.10:g.(?_103444631)_(103448784_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247918	NC_000022.10:g.(?_32217598)_(32219454_?)del	DEPDC5	Deletion	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 3247891	NC_000001.10:g.(?_94483475)_(94488958_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247890	NC_000001.10:g.(?_94525884)_(94528259_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247889	NC_000001.10:g.(?_94564009)_(94564419_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247861	NC_000001.10:g.(?_156102657)_(156104215_?)del	LMNA	Deletion	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 3247857	NC_000001.10:g.(?_12060714)_(12067233_?)del	MFN2	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 3247853	NC_000001.10:g.(?_154246017)_(154247306_?)del	HAX1	Deletion	Kostmann syndrome	GLikely pathogenic
Select item 3247823	NC_000001.10:g.(?_9779694)_(9781917_?)del	PIK3CD	Deletion	Immunodeficiency 14	GUncertain significance
Select item 3247806	NC_000001.10:g.(?_197404386)_(197410804_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247802	NC_000001.10:g.(?_46662492)_(46662823_?)del	POMGNT1	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 3247797	NC_000001.10:g.(?_63881705)_(63885042_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3247755	NC_000001.10:g.(?_20960807)_(20964608_?)del	PINK1	Deletion	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 3247746	NC_000001.10:g.(?_45798269)_(45801500_?)del	MUTYH	Deletion	Familial adenomatous polyposis 2	GPathogenic
Select item 3247712	NC_000022.10:g.(?_33984774)_(34022277_?)del	LARGE1	Deletion	Muscular dystrophy-dystroglycanopathy type B6	GLikely pathogenic
Select item 3247708	NC_000001.10:g.(?_193094317)_(193111354_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3247689	NC_000001.10:g.(?_53673408)_(53675786_?)del	CPT2	Deletion	Carnitine palmitoyltransferase II deficiency	GLikely pathogenic
Select item 3247654	NC_000001.10:g.(?_76214646)_(76216163_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247638	NC_000001.10:g.(?_156844810)_(156846190_?)del	NTRK1	Deletion	Hereditary insensitivity to pain with anhidrosis	GLikely pathogenic
Select item 3247626	NC_000001.10:g.(?_235850329)_(235858090_?)del	LYST	Deletion	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3247617	NC_000002.11:g.(?_26699834)_(26701396_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247571	NC_000002.11:g.(?_44068919)_(44073414_?)del	ABCG8	Deletion	not provided	GLikely pathogenic
Select item 3247538	NC_000002.11:g.(?_112767580)_(112770634_?)del	MERTK	Deletion	not provided	GPathogenic
Select item 3247530	NC_000002.11:g.(?_88868947)_(88879112_?)del	EIF2AK3	Deletion	not provided	GLikely pathogenic
Select item 3247506	NC_000002.11:g.(?_47596709)_(47601824_?)del	EPCAM	Deletion	not provided	GLikely pathogenic
Select item 3247470	NC_000002.11:g.(?_1481033)_(1482139_?)del	TPO	Deletion	not provided	GLikely pathogenic
Select item 3247440	NC_000002.11:g.(?_228096705)_(228104906_?)del	COL4A3	Deletion	not provided	GLikely pathogenic
Select item 3247418	NC_000002.11:g.(?_238271294)_(238275426_?)del	COL6A3	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3247414	NC_000002.11:g.(?_27681067)_(27687103_?)del	IFT172	Deletion	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 3247412	NC_000002.11:g.(?_27686032)_(27686703_?)del	IFT172	Deletion	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely pathogenic
Select item 3247405	NC_000002.11:g.(?_163167345)_(163171408_?)del	IFIH1	Deletion	Aicardi-Goutieres syndrome 7 +1 more	GUncertain significance
Select item 3247395	NC_000002.11:g.(?_51107396)_(51255135_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247394	NC_000002.11:g.(?_50724523)_(50808051_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247393	NC_000002.11:g.(?_50850729)_(50947381_?)del	NRXN1	Deletion	Pitt-Hopkins-like syndrome 2	GLikely pathogenic
Select item 3247377	NC_000002.11:g.(?_71793586)_(71797845_?)del	DYSF	Deletion	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3247362	NC_000002.11:g.(?_29436891)_(29440263_?)del	ALK	Deletion	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3247347	NC_000022.10:g.(?_38525509)_(38526920_?)del	PLA2G6	Deletion	Infantile neuroaxonal dystrophy	GPathogenic
Select item 3247330	NC_000002.11:g.(?_219136268)_(219139498_?)del	PNKD, TMBIM1	Deletion	Paroxysmal nonkinesigenic dyskinesia	GUncertain significance
Select item 3247273	NC_000002.11:g.(?_152483537)_(152487591_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247272	NC_000002.11:g.(?_152490288)_(152493899_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247269	NC_000002.11:g.(?_152511637)_(152512693_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247268	NC_000002.11:g.(?_152518793)_(152528469_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247267	NC_000002.11:g.(?_152541945)_(152544192_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247266	NC_000002.11:g.(?_152375260)_(152376281_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247264	NC_000002.11:g.(?_152420500)_(152423885_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247263	NC_000002.11:g.(?_152492904)_(152495879_?)del	NEB	Deletion	Nemaline myopathy 2	GLikely pathogenic
Select item 3247242	NC_000002.11:g.(?_166231283)_(166236819_?)del	SCN2A	Deletion	Seizures, benign familial infantile, 3 +1 more	GLikely pathogenic
Select item 3247223	NC_000002.11:g.(?_217303181)_(217308995_?)del	SMARCAL1	Deletion	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 3247218	NC_000002.11:g.(?_233194596)_(233197054_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247217	NC_000002.11:g.(?_232948617)_(232952332_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247199	NC_000002.11:g.(?_166907827)_(166909401_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247198	NC_000002.11:g.(?_166852724)_(166856279_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247186	NC_000002.11:g.(?_215608583)_(215610531_?)del	BARD1	Deletion	Familial cancer of breast	GPathogenic
Select item 3247185	NC_000002.11:g.(?_215632232)_(215673715_?)del	BARD1	Deletion	Familial cancer of breast	GPathogenic
Select item 3247183	NC_000002.11:g.(?_215610463)_(215611817_?)del	BARD1	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 3247165	NC_000002.11:g.(?_73679790)_(73710618_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247162	NC_000002.11:g.(?_73760681)_(73762027_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247161	NC_000002.11:g.(?_73718116)_(73724163_?)del	ALMS1	Deletion	Alstrom syndrome	GLikely pathogenic
Select item 3247058	NC_000003.11:g.(?_50230626)_(50232011_?)del	GNAT1	Deletion	not provided	GLikely pathogenic
Select item 3247034	NC_000003.11:g.(?_43621903)_(43626102_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247033	NC_000003.11:g.(?_43621903)_(43624057_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247022	NC_000003.11:g.(?_193356341)_(193360803_?)del	OPA1	Deletion	not provided	GLikely pathogenic
Select item 3247005	NC_000022.10:g.(?_19903225)_(19906419_?)del	TXNRD2	Deletion	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246955	NC_000003.11:g.(?_48609446)_(48618853_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246954	NC_000003.11:g.(?_48615911)_(48620525_?)del	COL7A1	Deletion	not provided	GPathogenic
Select item 3246945	NC_000003.11:g.(?_182788836)_(182792878_?)del	MCCC1	Deletion	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 3246941	NC_000003.11:g.(?_9971561)_(9971976_?)del	IL17RC	Deletion	Candidiasis, familial, 9	GUncertain significance
Select item 3246885	NC_000003.11:g.(?_33171213)_(33175693_?)del	CRTAP	Deletion	Osteogenesis imperfecta type 7	GPathogenic

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