ClinVar for Gene (Select 55556) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275454	NM_017512.7(ENOSF1):c.84+54G>C	ENOSF1 (M46I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275453	NM_017512.7(ENOSF1):c.134C>T (p.Ala45Val)	ENOSF1 (A93V +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3275452	NM_017512.7(ENOSF1):c.136G>A (p.Glu46Lys)	ENOSF1 (E46K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3275451	NM_017512.7(ENOSF1):c.328G>A (p.Val110Met)	ENOSF1 (V110M +3 more)	Single nucleotide variant (5 prime UTR variant +2 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 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 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 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 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 3088923	NM_017512.7(ENOSF1):c.545T>C (p.Met182Thr)	ENOSF1 (M182T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088922	NM_017512.7(ENOSF1):c.487G>A (p.Asp163Asn)	ENOSF1 (D163N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088921	NM_017512.7(ENOSF1):c.469G>C (p.Asp157His)	ENOSF1 (D205H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088920	NM_017512.7(ENOSF1):c.459G>C (p.Arg153Ser)	ENOSF1 (R71S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2648514	NM_017512.7(ENOSF1):c.1049-8C>T	ENOSF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 2511533	NM_017512.7(ENOSF1):c.554A>G (p.Gln185Arg)	ENOSF1 (Q103R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491027	NM_017512.7(ENOSF1):c.302T>G (p.Leu101Arg)	ENOSF1 (L101R +1 more)	Single nucleotide variant (5 prime UTR variant +3 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 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 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2386554	NM_017512.7(ENOSF1):c.562C>A (p.Pro188Thr)	ENOSF1 (P236T +4 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 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 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 2374621	NM_017512.7(ENOSF1):c.254T>G (p.Val85Gly)	ENOSF1 (V85G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
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 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 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
Select item 2324460	NM_017512.7(ENOSF1):c.520G>C (p.Gly174Arg)	ENOSF1 (G159R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300101	NM_017512.7(ENOSF1):c.104C>T (p.Ser35Leu)	ENOSF1 (S35L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295511	NM_017512.7(ENOSF1):c.118G>A (p.Val40Ile)	ENOSF1 (V40I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2276254	NM_017512.7(ENOSF1):c.89C>T (p.Thr30Met)	ENOSF1 (T30M +1 more)	Single nucleotide variant (5 prime UTR variant +2 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 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 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 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 1808401	GRCh37/hg19 18p11.32(chr18:136227-2626840)x1	ADCYAP1, CETN1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	DLGAP1, DLGAP1-AS2 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
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 1693539	NM_001071.4(TYMS):c.556+1G>A	ENOSF1, TYMS	Single nucleotide variant (splice donor 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 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 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 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1340624	GRCh37/hg19 18p11.32(chr18:617707-2154890)x3	ADCYAP1, CLUL1 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340357	GRCh37/hg19 18p11.32(chr18:136227-2694169)x1	ADCYAP1, CETN1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1234187	NM_017512.7(ENOSF1):c.*1219T>C	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 983167	GRCh37/hg19 18p11.32(chr18:10001-1322185)	TYMSOS, TYMS +8 more	Copy number gain	See cases	GUncertain significance
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 979534	GRCh37/hg19 18p11.32(chr18:136226-2243194)x1	TYMS, ADCYAP1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979533	GRCh37/hg19 18p11.32(chr18:544117-2279032)x1	ENOSF1, TYMS +5 more	Copy number loss	not provided	GUncertain significance
Select item 979530	GRCh37/hg19 18p11.32(chr18:1-2243194)x3	TYMSOS, COLEC12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 979529	GRCh37/hg19 18p11.32(chr18:136226-2626840)x1	NDC80, THOC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979528	GRCh37/hg19 18p11.32(chr18:351499-825957)x3	CETN1, ENOSF1 +5 more	Copy number gain	not provided	GLikely benign
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815967	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ZBTB14, MYL12A +19 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 815961	GRCh37/hg19 18p11.32(chr18:544117-2243194)x3	CETN1, ADCYAP1 +5 more	Copy number gain	not provided	GLikely benign
Select item 815959	GRCh37/hg19 18p11.32(chr18:136226-1552876)x1	ADCYAP1, CETN1 +8 more	Copy number loss	not provided	GUncertain significance

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