ENOSF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545223	NC_000018.10:g.(?_10000)_(1543845_?)del	ADCYAP1, CETN1 +36 more	Deletion	Autism	GLikely pathogenic
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154071	GRCh38/hg38 18p11.32(chr18:136226-948277)x1	ADCYAP1, CETN1 +26 more	Copy number loss	See cases	GUncertain significance
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 152369	GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1	EMILIN2, ADCYAP1 +63 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154302	GRCh38/hg38 18p11.32(chr18:148963-1413685)x1	ADCYAP1, CETN1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148017	GRCh38/hg38 18p11.32(chr18:148963-1949961)x1	ADCYAP1, CETN1 +34 more	Copy number loss	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 147461	GRCh38/hg38 18p11.32(chr18:148963-2563898)x1	LOC126862677, LOC126862678 +41 more	Copy number loss	See cases	GUncertain significance
Select item 147395	GRCh38/hg38 18p11.32(chr18:148963-2313458)x1	ADCYAP1, CETN1 +36 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146225	GRCh38/hg38 18p11.32(chr18:148963-2221286)x3	TYMS, TYMSOS +35 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149895	GRCh38/hg38 18p11.32(chr18:149089-1754473)x1	ADCYAP1, CETN1 +32 more	Copy number loss	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 154659	GRCh38/hg38 18p11.32(chr18:225061-776965)x3	CETN1, CLUL1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155261	GRCh38/hg38 18p11.32(chr18:287678-901105)x3	CETN1, CLUL1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155404	GRCh38/hg38 18p11.32(chr18:367724-759986)x1	CETN1, CLUL1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 147699	GRCh38/hg38 18p11.32(chr18:374344-699626)x3	CETN1, CLUL1 +11 more	Copy number gain	See cases	GBenign
Select item 145342	GRCh38/hg38 18p11.32(chr18:605175-1371075)x3	ADCYAP1, CLUL1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 148158	GRCh38/hg38 18p11.32(chr18:605210-1802497)x3	ADCYAP1, CLUL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 146229	GRCh38/hg38 18p11.32(chr18:605210-2425566)x3	ADCYAP1, CLUL1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1693536	NM_001071.4(TYMS):c.480A>T (p.Gln160His)	ENOSF1, TYMS (Q160H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1693537	NM_001071.4(TYMS):c.486_487del (p.Arg163fs)	ENOSF1, TYMS (R163fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693538	NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter)	ENOSF1, TYMS (M179* +1 more)	Insertion (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2350980	NM_001071.4(TYMS):c.554G>A (p.Arg185Lys)	ENOSF1, TYMS (R185K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1693539	NM_001071.4(TYMS):c.556+1G>A	ENOSF1, TYMS	Single nucleotide variant (splice donor variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2648513	NM_001071.4(TYMS):c.690C>T (p.Tyr230=)	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2548497	NM_001071.4(TYMS):c.710T>C (p.Ile237Thr)	ENOSF1, TYMS (I154T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 718816	NM_001071.4(TYMS):c.786C>T (p.Ile262=)	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1693540	NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)	ENOSF1, TYMS (R188* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 1234187	NM_017512.7(ENOSF1):c.*1219T>C	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3088919	NM_017512.7(ENOSF1):c.1313T>G (p.Leu438Arg)	ENOSF1 (L356R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385099	NM_017512.7(ENOSF1):c.1213T>C (p.Ser405Pro)	ENOSF1 (S391P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515557	NM_017512.7(ENOSF1):c.1208G>A (p.Arg403Gln)	ENOSF1 (R222Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374707	NM_017512.7(ENOSF1):c.1207C>T (p.Arg403Trp)	ENOSF1 (R389W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523252	NM_017512.7(ENOSF1):c.1205A>C (p.Gln402Pro)	ENOSF1 (Q221P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207727	NM_017512.7(ENOSF1):c.1195G>C (p.Val399Leu)	ENOSF1 (V399L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381966	NM_017512.7(ENOSF1):c.1112T>C (p.Phe371Ser)	ENOSF1 (F371S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088918	NM_017512.7(ENOSF1):c.1085G>C (p.Cys362Ser)	ENOSF1 (C280S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467263	NM_017512.7(ENOSF1):c.1075G>A (p.Val359Ile)	ENOSF1 (V345I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648514	NM_017512.7(ENOSF1):c.1049-8C>T	ENOSF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203974	NM_017512.7(ENOSF1):c.1018T>C (p.Ser340Pro)	ENOSF1 (S258P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275450	NM_017512.7(ENOSF1):c.1010A>G (p.Glu337Gly)	ENOSF1 (E385G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088917	NM_017512.7(ENOSF1):c.980T>C (p.Ile327Thr)	ENOSF1 (I146T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088927	NM_017512.7(ENOSF1):c.949C>A (p.Leu317Ile)	ENOSF1 (L136I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272956	NM_017512.7(ENOSF1):c.784G>A (p.Glu262Lys)	ENOSF1 (E247K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337123	NM_017512.7(ENOSF1):c.779C>T (p.Ala260Val)	ENOSF1 (A178V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275449	NM_017512.7(ENOSF1):c.755A>G (p.Asn252Ser)	ENOSF1 (N170S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088926	NM_017512.7(ENOSF1):c.745A>T (p.Met249Leu)	ENOSF1 (M167L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601781	NM_017512.7(ENOSF1):c.742A>G (p.Met248Val)	ENOSF1 (M233V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088925	NM_017512.7(ENOSF1):c.728C>T (p.Pro243Leu)	ENOSF1 (P161L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088924	NM_017512.7(ENOSF1):c.641A>G (p.Asp214Gly)	ENOSF1 (D199G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470912	NM_017512.7(ENOSF1):c.635T>C (p.Leu212Pro)	ENOSF1 (L130P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258909	NM_017512.7(ENOSF1):c.580T>A (p.Cys194Ser)	ENOSF1 (C13S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333563	NM_017512.7(ENOSF1):c.578C>T (p.Ser193Leu)	ENOSF1 (S241L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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