ClinVar for Gene (Select 10730) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333714	NM_014263.4(YME1L1):c.1007C>T (p.Ala336Val)	YME1L1 (A336V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333713	NM_014263.4(YME1L1):c.128A>G (p.His43Arg)	YME1L1 (H43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245041	NC_000010.10:g.(?_27294519)_(28250664_?)dup	ACBD5, ANKRD26 +6 more	Duplication	not provided	GUncertain significance
Select item 3245039	NC_000010.10:g.(?_27411750)_(27443139_?)dup	YME1L1	Duplication	not provided	GUncertain significance
Select item 3191617	NM_014263.4(YME1L1):c.552G>C (p.Leu184Phe)	YME1L1 (L241F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191616	NM_014263.4(YME1L1):c.65C>T (p.Ala22Val)	YME1L1 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191615	NM_014263.4(YME1L1):c.168+1352T>G	YME1L1 (L95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191614	NM_014263.4(YME1L1):c.149A>G (p.His50Arg)	YME1L1 (H50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191613	NM_014263.4(YME1L1):c.125A>G (p.Gln42Arg)	YME1L1 (Q42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3043033	NM_014263.4(YME1L1):c.692-4C>T	YME1L1	Single nucleotide variant (intron variant)	YME1L1-related disorder	GLikely benign
Select item 3021284	NM_014263.4(YME1L1):c.647C>T (p.Ala216Val)	YME1L1 (A183V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020692	NM_014263.4(YME1L1):c.950-18G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020285	NM_014263.4(YME1L1):c.540+19G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018263	NM_014263.4(YME1L1):c.2030A>G (p.His677Arg)	YME1L1 (H734R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011956	NM_014263.4(YME1L1):c.1467G>A (p.Leu489=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007001	NM_014263.4(YME1L1):c.717T>G (p.Ile239Met)	YME1L1 (I206M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003491	NM_014263.4(YME1L1):c.431-19A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994774	NM_014263.4(YME1L1):c.1411+19A>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990870	NM_014263.4(YME1L1):c.847C>T (p.His283Tyr)	YME1L1 (H250Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986618	NM_014263.4(YME1L1):c.534C>T (p.Phe178=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984211	NM_014263.4(YME1L1):c.691+15_691+16inv	YME1L1	Inversion (intron variant)	not provided	GUncertain significance
Select item 2982054	NM_014263.4(YME1L1):c.1567+12T>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981783	NM_014263.4(YME1L1):c.1921-20T>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967269	NM_014263.4(YME1L1):c.168+1226C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956251	NM_014263.4(YME1L1):c.949+11T>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919706	NM_014263.4(YME1L1):c.1102+3A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2910813	NM_014263.4(YME1L1):c.89C>G (p.Ser30Cys)	YME1L1 (S30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909515	NM_014263.4(YME1L1):c.496G>A (p.Glu166Lys)	YME1L1 (E166K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900397	NM_014263.4(YME1L1):c.168+1407C>G	YME1L1 (P113R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898066	NM_014263.4(YME1L1):c.88T>G (p.Ser30Ala)	YME1L1 (S30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897375	NM_014263.4(YME1L1):c.962T>C (p.Val321Ala)	YME1L1 (V288A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896806	NM_014263.4(YME1L1):c.303T>G (p.Ser101=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873695	NM_014263.4(YME1L1):c.332-4C>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843620	NM_014263.4(YME1L1):c.254T>A (p.Phe85Tyr)	YME1L1 (F142Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839607	NM_014263.4(YME1L1):c.1847-12A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836686	NM_014263.4(YME1L1):c.4T>A (p.Phe2Ile)	YME1L1 (F2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822214	NM_014263.4(YME1L1):c.640G>A (p.Gly214Ser)	YME1L1 (G181S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799266	NM_014263.4(YME1L1):c.961G>T (p.Val321Phe)	YME1L1 (V321F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796017	NM_014263.4(YME1L1):c.1921-13C>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789159	NM_014263.4(YME1L1):c.691+19A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785398	NM_014263.4(YME1L1):c.1651T>C (p.Tyr551His)	YME1L1 (Y551H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2775830	NM_014263.4(YME1L1):c.858G>A (p.Gly286=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2768720	NM_014263.4(YME1L1):c.266A>T (p.Lys89Ile)	YME1L1 (K146I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747912	NM_014263.4(YME1L1):c.949+16T>C	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743259	NM_014263.4(YME1L1):c.486G>A (p.Gln162=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729726	NM_014263.4(YME1L1):c.1115C>T (p.Ala372Val)	YME1L1 (A339V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2616152	NM_014263.4(YME1L1):c.490A>G (p.Thr164Ala)	YME1L1 (T164A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594160	NM_014263.4(YME1L1):c.1834C>T (p.His612Tyr)	YME1L1 (H579Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2554822	NM_014263.4(YME1L1):c.586A>G (p.Lys196Glu)	YME1L1 (K196E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551023	NM_014263.4(YME1L1):c.168+1404T>C	YME1L1 (I112T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549108	NM_014263.4(YME1L1):c.251G>A (p.Gly84Glu)	YME1L1 (G141E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498459	NM_014263.4(YME1L1):c.168+1473C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2485516	NM_014263.4(YME1L1):c.112G>A (p.Val38Ile)	YME1L1 (V38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471524	NM_014263.4(YME1L1):c.1383G>T (p.Trp461Cys)	YME1L1 (W428C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2468730	NM_014263.4(YME1L1):c.1888C>T (p.Arg630Trp)	YME1L1 (R597W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	ABI1, ACBD5 +9 more	Duplication	not provided	GUncertain significance
Select item 2426003	NC_000010.10:g.(?_27294519)_(27443139_?)dup	ANKRD26, YME1L1	Duplication	not provided	GUncertain significance
Select item 2413283	NM_014263.4(YME1L1):c.1412-5A>G	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2404162	NM_014263.4(YME1L1):c.168+1383C>T	YME1L1 (P105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401418	NM_014263.4(YME1L1):c.1286A>G (p.Glu429Gly)	YME1L1 (E429G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397125	NM_014263.4(YME1L1):c.20C>T (p.Thr7Met)	YME1L1 (T7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335094	NM_014263.4(YME1L1):c.515A>G (p.Gln172Arg)	YME1L1 (Q139R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301397	NM_014263.4(YME1L1):c.1585G>T (p.Val529Leu)	YME1L1 (V496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293323	NM_014263.4(YME1L1):c.1810G>A (p.Glu604Lys)	YME1L1 (E604K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278910	NM_014263.4(YME1L1):c.1642A>G (p.Ile548Val)	YME1L1 (I605V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258530	NM_014263.4(YME1L1):c.168+1364G>A	YME1L1 (D99N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2201319	NM_014263.4(YME1L1):c.1047C>T (p.Ser349=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185853	NM_014263.4(YME1L1):c.775+7G>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179491	NM_014263.4(YME1L1):c.1830C>T (p.Thr610=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175422	NM_014263.4(YME1L1):c.1935C>G (p.Thr645=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175197	NM_014263.4(YME1L1):c.1236-10dup	YME1L1	Duplication (intron variant)	not provided	GBenign
Select item 2164806	NM_014263.4(YME1L1):c.281A>G (p.His94Arg)	YME1L1 (H151R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163995	NM_014263.4(YME1L1):c.553C>T (p.Arg185Trp)	YME1L1 (R242W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2163253	NM_014263.4(YME1L1):c.168+1281T>C	YME1L1 (I71T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162225	NM_014263.4(YME1L1):c.704G>A (p.Arg235Gln)	YME1L1 (R202Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162081	NM_014263.4(YME1L1):c.168+1379C>T	YME1L1 (R104C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159944	NM_014263.4(YME1L1):c.246T>C (p.Leu82=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2126139	NM_014263.4(YME1L1):c.32A>T (p.Gln11Leu)	YME1L1 (Q11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115096	NM_014263.4(YME1L1):c.168+1233_168+1234insAAAACCTCTCTTCCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	YME1L1	Insertion (intron variant)	not provided	GLikely benign
Select item 2103883	NM_014263.4(YME1L1):c.2138T>C (p.Leu713Ser)	YME1L1 (L770S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098012	NM_014263.4(YME1L1):c.1309C>T (p.Arg437Cys)	YME1L1 (R437C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083643	NM_014263.4(YME1L1):c.613G>A (p.Glu205Lys)	YME1L1 (E262K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082835	NM_014263.4(YME1L1):c.738C>T (p.Phe246=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2080330	NM_014263.4(YME1L1):c.131G>A (p.Arg44Gln)	YME1L1 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071558	NM_014263.4(YME1L1):c.1967C>G (p.Thr656Ser)	YME1L1 (T713S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070446	NM_014263.4(YME1L1):c.419A>G (p.Gln140Arg)	YME1L1 (Q140R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2067549	NM_014263.4(YME1L1):c.648G>A (p.Ala216=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056971	NM_014263.4(YME1L1):c.1725C>G (p.Ser575=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050909	NM_014263.4(YME1L1):c.1414G>A (p.Val472Ile)	YME1L1 (V472I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049786	NM_014263.4(YME1L1):c.1711C>G (p.Leu571Val)	YME1L1 (L571V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042987	NM_014263.4(YME1L1):c.2029C>T (p.His677Tyr)	YME1L1 (H734Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042906	NM_014263.4(YME1L1):c.805T>A (p.Ser269Thr)	YME1L1 (S269T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024853	NM_014263.4(YME1L1):c.692-13C>A	YME1L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024226	NM_014263.4(YME1L1):c.1041T>C (p.Ser347=)	YME1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015159	NM_014263.4(YME1L1):c.1944T>A (p.Asp648Glu)	YME1L1 (D615E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993157	NM_014263.4(YME1L1):c.271A>G (p.Ile91Val)	YME1L1 (I148V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986186	NM_014263.4(YME1L1):c.168+1417C>T	YME1L1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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