ClinVar for Gene (Select 10807) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275569	NM_001039707.2(ENTR1):c.1271G>A (p.Arg424Lys)	ENTR1 (R401K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275568	NM_001039707.2(ENTR1):c.257G>A (p.Ser86Asn)	ENTR1 (S86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275567	NM_001039707.2(ENTR1):c.304G>A (p.Asp102Asn)	ENTR1 (D79N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275566	NM_001039707.2(ENTR1):c.656C>T (p.Ser219Leu)	ENTR1 (S146L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275565	NM_001039707.2(ENTR1):c.728C>G (p.Ser243Cys)	ENTR1 (S220C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275564	NM_001039707.2(ENTR1):c.308T>C (p.Leu103Pro)	ENTR1 (L30P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245352	NC_000009.11:g.(?_139304522)_(139309119_?)del	PMPCA, ENTR1	Deletion	not provided	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245277	NC_000009.11:g.(?_139297240)_(139410566_?)del	C9orf163, ENTR1 +4 more	Deletion	Adams-Oliver syndrome 5	GPathogenic
Select item 3245126	NC_000009.11:g.(?_139265559)_(139333126_?)del	CARD9, ENTR1 +3 more	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3089164	NM_001039707.2(ENTR1):c.946G>A (p.Asp316Asn)	ENTR1, LOC130003006 (D293N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089163	NM_001039707.2(ENTR1):c.867G>C (p.Gln289His)	ENTR1 (Q289H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089162	NM_001039707.2(ENTR1):c.831A>C (p.Glu277Asp)	ENTR1 (E204D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089161	NM_001039707.2(ENTR1):c.826G>A (p.Asp276Asn)	ENTR1 (D276N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089160	NM_001039707.2(ENTR1):c.797C>T (p.Thr266Met)	ENTR1 (T266M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089159	NM_001039707.2(ENTR1):c.793C>T (p.Arg265Trp)	ENTR1 (R242W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089158	NM_001039707.2(ENTR1):c.758C>T (p.Ala253Val)	ENTR1 (A230V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089157	NM_001039707.2(ENTR1):c.713G>A (p.Arg238His)	ENTR1 (R238H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089156	NM_001039707.2(ENTR1):c.659A>G (p.Glu220Gly)	ENTR1 (E197G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089155	NM_001039707.2(ENTR1):c.649A>G (p.Thr217Ala)	ENTR1 (T217A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089154	NM_001039707.2(ENTR1):c.585G>C (p.Gln195His)	ENTR1 (Q195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089153	NM_001039707.2(ENTR1):c.574G>A (p.Ala192Thr)	ENTR1 (A169T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089152	NM_001039707.2(ENTR1):c.550T>G (p.Trp184Gly)	ENTR1 (W111G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089151	NM_001039707.2(ENTR1):c.547G>A (p.Gly183Arg)	ENTR1 (G160R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089150	NM_001039707.2(ENTR1):c.445C>T (p.Pro149Ser)	ENTR1 (P149S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089149	NM_001039707.2(ENTR1):c.410C>T (p.Ser137Leu)	ENTR1 (S114L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089148	NM_001039707.2(ENTR1):c.368C>T (p.Ser123Leu)	ENTR1 (S100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089147	NM_001039707.2(ENTR1):c.368C>G (p.Ser123Trp)	ENTR1 (S100W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089146	NM_001039707.2(ENTR1):c.358C>T (p.Leu120Phe)	ENTR1 (L47F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089145	NM_001039707.2(ENTR1):c.332T>A (p.Phe111Tyr)	ENTR1 (F111Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089144	NM_001039707.2(ENTR1):c.317C>G (p.Ala106Gly)	ENTR1 (A83G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089143	NM_001039707.2(ENTR1):c.218C>A (p.Thr73Lys)	ENTR1 (T73K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089142	NM_001039707.2(ENTR1):c.187C>T (p.Pro63Ser)	ENTR1 (P63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089141	NM_001039707.2(ENTR1):c.157G>C (p.Gly53Arg)	ENTR1 (G53R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089140	NM_001039707.2(ENTR1):c.1266A>G (p.Ile422Met)	ENTR1 (I399M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089139	NM_001039707.2(ENTR1):c.125C>G (p.Pro42Arg)	ENTR1 (P42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089138	NM_001039707.2(ENTR1):c.1249G>A (p.Glu417Lys)	ENTR1 (E417K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089137	NM_001039707.2(ENTR1):c.1150G>A (p.Ala384Thr)	ENTR1 (A384T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089136	NM_001039707.2(ENTR1):c.1124C>T (p.Ala375Val)	ENTR1 (A302V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089135	NM_001039707.2(ENTR1):c.1121G>C (p.Gly374Ala)	ENTR1 (G301A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2599103	NM_001039707.2(ENTR1):c.352A>G (p.Lys118Glu)	ENTR1 (K95E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594931	NM_001039707.2(ENTR1):c.1271G>C (p.Arg424Thr)	ENTR1 (R351T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555361	NM_001039707.2(ENTR1):c.715G>A (p.Val239Met)	ENTR1 (V166M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522625	NM_001039707.2(ENTR1):c.1118A>C (p.Gln373Pro)	ENTR1 (Q373P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511467	NM_001039707.2(ENTR1):c.1082A>G (p.Asn361Ser)	ENTR1 (N338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482303	NM_001039707.2(ENTR1):c.237G>T (p.Lys79Asn)	ENTR1 (K79N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479841	NM_001039707.2(ENTR1):c.932T>C (p.Ile311Thr)	ENTR1, LOC130003006 (I238T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474638	NM_001039707.2(ENTR1):c.1147A>G (p.Asn383Asp)	ENTR1 (N383D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465727	NM_001039707.2(ENTR1):c.1114G>A (p.Gly372Ser)	ENTR1 (G372S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427140	NC_000009.11:g.(?_139258754)_(139325589_?)dup	CARD9, ENTR1 +3 more	Duplication	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 1295434	NC_000009.12:g.136410572G>A	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1263488	NC_000009.12:g.136410589C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1259867	NC_000009.12:g.136410555C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1062726	NC_000009.11:g.(?_139297240)_(139572028_?)dup	AGPAT2, C9orf163 +7 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 1008189	NC_000009.11:g.(?_138594085)_(140062314_?)dup	ABCA2, AGPAT2 +49 more	Duplication	Developmental and epileptic encephalopathy, 14 +2 more	GUncertain significance
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	AGPAT2, AJM1 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 688183	GRCh37/hg19 9q34.3(chr9:139268640-139329037)x1	ENTR1, INPP5E +2 more	Copy number loss	not provided	GUncertain significance
Select item 688176	GRCh37/hg19 9q34.3(chr9:139268640-139329037)x1	ENTR1, INPP5E +2 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 660707	NC_000009.11:g.(?_138594085)_(139440258_?)dup	C9orf163, CAMSAP1 +15 more	Duplication	Developmental and epileptic encephalopathy, 14 +1 more	GUncertain significance
Select item 655240	NC_000009.11:g.(?_138683633)_(139440248_?)dup	C9orf163, CAMSAP1 +15 more	Duplication	Adams-Oliver syndrome 5	GUncertain significance
Select item 640461	NC_000009.11:g.(?_138683633)_(139440248_?)del	C9orf163, CAMSAP1 +15 more	Deletion	Adams-Oliver syndrome 5	GPathogenic
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic

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