UAP1L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	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 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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 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 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 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 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 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 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2353652	NM_207309.3(UAP1L1):c.23G>A (p.Arg8His)	LOC130003074, UAP1L1 (R8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185363	NM_207309.3(UAP1L1):c.29G>A (p.Arg10Gln)	LOC130003074, UAP1L1 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342887	NM_207309.3(UAP1L1):c.67T>G (p.Trp23Gly)	LOC130003074, UAP1L1 (W23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185368	NM_207309.3(UAP1L1):c.91C>G (p.Arg31Gly)	LOC130003074, UAP1L1 (R31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487065	NM_207309.3(UAP1L1):c.145C>T (p.His49Tyr)	LOC130003074, UAP1L1 (H49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185359	NM_207309.3(UAP1L1):c.152G>A (p.Arg51Gln)	LOC130003074, UAP1L1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230435	NM_207309.3(UAP1L1):c.158C>G (p.Ala53Gly)	LOC130003074, UAP1L1 (A53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349070	NM_207309.3(UAP1L1):c.164A>C (p.Glu55Ala)	LOC130003074, UAP1L1 (E55A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336893	NM_207309.3(UAP1L1):c.183C>A (p.His61Gln)	LOC130003075, UAP1L1 (H61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185360	NM_207309.3(UAP1L1):c.223C>G (p.Pro75Ala)	LOC130003075, UAP1L1 (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185361	NM_207309.3(UAP1L1):c.227C>G (p.Pro76Arg)	LOC130003075, UAP1L1 (P76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481350	NM_207309.3(UAP1L1):c.229G>A (p.Glu77Lys)	LOC130003075, UAP1L1 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185362	NM_207309.3(UAP1L1):c.295C>T (p.Arg99Cys)	UAP1L1 (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274636	NM_207309.3(UAP1L1):c.356T>A (p.Leu119Gln)	UAP1L1 (L119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357192	NM_207309.3(UAP1L1):c.439C>T (p.Arg147Trp)	UAP1L1 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185364	NM_207309.3(UAP1L1):c.454C>G (p.Leu152Val)	UAP1L1 (L152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659799	NM_207309.3(UAP1L1):c.460G>A (p.Gly154Ser)	UAP1L1 (G154S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2337110	NM_207309.3(UAP1L1):c.526C>G (p.Pro176Ala)	UAP1L1 (P176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279817	NM_207309.3(UAP1L1):c.558C>A (p.Phe186Leu)	UAP1L1 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599765	NM_207309.3(UAP1L1):c.625G>A (p.Gly209Ser)	UAP1L1 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330480	NM_207309.3(UAP1L1):c.677A>G (p.Asn226Ser)	UAP1L1 (N226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185365	NM_207309.3(UAP1L1):c.721G>A (p.Asp241Asn)	UAP1L1 (D241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234636	NM_207309.3(UAP1L1):c.766G>A (p.Asp256Asn)	UAP1L1 (D256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456881	NM_207309.3(UAP1L1):c.793C>T (p.Pro265Ser)	UAP1L1 (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185367	NM_207309.3(UAP1L1):c.832T>C (p.Cys278Arg)	UAP1L1 (C278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546636	NM_207309.3(UAP1L1):c.1039G>A (p.Glu347Lys)	UAP1L1 (E347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544016	NM_207309.3(UAP1L1):c.1066G>A (p.Val356Met)	UAP1L1 (V356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407135	NM_207309.3(UAP1L1):c.1085C>T (p.Pro362Leu)	UAP1L1 (P362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521169	NM_207309.3(UAP1L1):c.1114A>G (p.Lys372Glu)	UAP1L1 (K372E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225603	NM_207309.3(UAP1L1):c.1117C>T (p.Pro373Ser)	UAP1L1 (P373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330481	NM_207309.3(UAP1L1):c.1127C>G (p.Pro376Arg)	UAP1L1 (P376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185357	NM_207309.3(UAP1L1):c.1199T>C (p.Val400Ala)	UAP1L1 (V400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341854	NM_207309.3(UAP1L1):c.1234G>A (p.Ala412Thr)	UAP1L1 (A412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622440	NM_207309.3(UAP1L1):c.1262G>A (p.Arg421His)	UAP1L1 (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536810	NM_207309.3(UAP1L1):c.1309C>T (p.Arg437Trp)	UAP1L1 (R437W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392039	NM_207309.3(UAP1L1):c.1315G>A (p.Gly439Arg)	UAP1L1 (G439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380583	NM_207309.3(UAP1L1):c.1321C>T (p.Arg441Cys)	UAP1L1 (R441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185358	NM_207309.3(UAP1L1):c.1453G>A (p.Gly485Ser)	UAP1L1 (G485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382945	NM_207309.3(UAP1L1):c.1457G>A (p.Arg486Gln)	UAP1L1 (R486Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	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 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic

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