30669[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147492	GRCh38/hg38 1q42.13(chr1:227127485-227859407)x1	CDC42BPA, JMJD4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 145605	GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4	ARF1, BTNL10 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 3287203	NM_023007.3(JMJD4):c.1235A>T (p.Asp412Val)	JMJD4, SNAP47 (D396V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112336	NM_023007.3(JMJD4):c.1218G>T (p.Gln406His)	JMJD4, SNAP47 (Q406H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353722	NM_023007.3(JMJD4):c.1211T>A (p.Leu404Gln)	JMJD4, SNAP47 (L388Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319142	NM_023007.3(JMJD4):c.1183G>A (p.Ala395Thr)	JMJD4, SNAP47 (A395T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112335	NM_023007.3(JMJD4):c.1159G>A (p.Asp387Asn)	JMJD4, SNAP47 (D387N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371408	NM_023007.3(JMJD4):c.1151C>T (p.Ala384Val)	JMJD4, SNAP47 (A368V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235589	NM_023007.3(JMJD4):c.1147G>A (p.Val383Ile)	JMJD4, SNAP47 (V383I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285235	NM_023007.3(JMJD4):c.1132G>A (p.Val378Met)	JMJD4, SNAP47 (V362M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623878	NM_023007.3(JMJD4):c.1130A>G (p.Glu377Gly)	JMJD4, SNAP47 (E361G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112334	NM_023007.3(JMJD4):c.1121G>A (p.Arg374His)	JMJD4, SNAP47 (R358H +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3287200	NM_023007.3(JMJD4):c.1034C>T (p.Ala345Val)	JMJD4, SNAP47 (A329V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282852	NM_023007.3(JMJD4):c.1021C>T (p.Leu341Phe)	JMJD4, SNAP47 (L325F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278165	NM_023007.3(JMJD4):c.986G>C (p.Cys329Ser)	JMJD4, SNAP47 (C313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284747	NM_023007.3(JMJD4):c.947C>A (p.Pro316His)	JMJD4, SNAP47 (P316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399805	NM_023007.3(JMJD4):c.883C>T (p.Arg295Cys)	JMJD4, SNAP47 (R295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112345	NM_023007.3(JMJD4):c.823G>T (p.Asp275Tyr)	JMJD4, SNAP47 (D275Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287201	NM_023007.3(JMJD4):c.749C>T (p.Pro250Leu)	JMJD4, SNAP47 (P250L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112344	NM_023007.3(JMJD4):c.728G>A (p.Arg243Gln)	JMJD4, SNAP47 (R243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778255	NM_023007.3(JMJD4):c.684C>T (p.Tyr228=)	JMJD4, SNAP47	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2477581	NM_023007.3(JMJD4):c.675C>A (p.Asn225Lys)	JMJD4, SNAP47 (N225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112343	NM_023007.3(JMJD4):c.671G>A (p.Gly224Asp)	JMJD4, SNAP47 (G224D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287202	NM_023007.3(JMJD4):c.635C>T (p.Pro212Leu)	JMJD4, SNAP47 (P212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368698	NM_023007.3(JMJD4):c.541C>A (p.Pro181Thr)	JMJD4, SNAP47 (P181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283686	NM_023007.3(JMJD4):c.536C>T (p.Ala179Val)	JMJD4, SNAP47 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3112342	NM_023007.3(JMJD4):c.535G>T (p.Ala179Ser)	JMJD4, SNAP47 (A179S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320914	NM_023007.3(JMJD4):c.479A>G (p.Asp160Gly)	JMJD4, SNAP47 (D160G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112341	NM_023007.3(JMJD4):c.437C>T (p.Pro146Leu)	JMJD4, SNAP47 (P146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230003	NM_023007.3(JMJD4):c.386C>T (p.Ser129Phe)	JMJD4, SNAP47 (S129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112340	NM_023007.3(JMJD4):c.361G>A (p.Glu121Lys)	JMJD4, SNAP47 (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562763	NM_023007.3(JMJD4):c.332C>T (p.Thr111Ile)	JMJD4, SNAP47 (T111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358691	NM_023007.3(JMJD4):c.328A>T (p.Met110Leu)	JMJD4, SNAP47 (M110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512484	NM_023007.3(JMJD4):c.205C>T (p.Arg69Trp)	JMJD4, SNAP47 (R69W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2211664	NM_023007.3(JMJD4):c.136C>T (p.Arg46Trp)	JMJD4, SNAP47 (R46W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112339	NM_023007.3(JMJD4):c.119C>T (p.Ser40Phe)	JMJD4, SNAP47 (S40F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384348	NM_023007.3(JMJD4):c.76G>T (p.Ala26Ser)	JMJD4, SNAP47 (A26S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112338	NM_023007.3(JMJD4):c.25G>A (p.Ala9Thr)	JMJD4, SNAP47 (A9T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112337	NM_023007.3(JMJD4):c.20C>G (p.Ala7Gly)	JMJD4, SNAP47 (A7G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215368	NM_023007.3(JMJD4):c.16C>T (p.Arg6Cys)	JMJD4, SNAP47 (R6C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2540971	NM_023007.3(JMJD4):c.-8T>G	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2406752	NM_023007.3(JMJD4):c.-11T>C	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513332	NM_053052.3(SNAP47):c.5G>A (p.Arg2His)	SNAP47 (R2H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462415	NM_053052.3(SNAP47):c.7G>C (p.Ala3Pro)	SNAP47 (A3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545496	NM_053052.3(SNAP47):c.22C>T (p.Leu8Phe)	SNAP47 (L8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358809	NM_053052.4(SNAP47):c.-107G>A	SNAP47 (C10Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3166859	NM_053052.4(SNAP47):c.-92G>A	SNAP47 (R15Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2270413	NM_053052.4(SNAP47):c.-86G>A	SNAP47 (R17K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3166862	NM_053052.4(SNAP47):c.-75C>G	SNAP47 (R21G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3321108	NM_053052.4(SNAP47):c.-72C>T	SNAP47 (L22F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2368494	NM_053052.4(SNAP47):c.-22G>C	SNAP47 (W38C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2392468	NM_053052.4(SNAP47):c.-17C>T	SNAP47 (T40I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3166854	NM_053052.4(SNAP47):c.-6G>A	SNAP47 (E44K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3166857	NM_053052.4(SNAP47):c.35G>A (p.Cys12Tyr)	SNAP47 (C57Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290593	NM_053052.4(SNAP47):c.41A>G (p.Tyr14Cys)	SNAP47 (Y14C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534876	NM_053052.4(SNAP47):c.148C>A (p.Leu50Ile)	SNAP47 (L95I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303295	NM_053052.4(SNAP47):c.173A>G (p.Lys58Arg)	SNAP47 (K103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458913	NM_053052.4(SNAP47):c.202A>G (p.Ile68Val)	SNAP47 (I113V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206791	NM_053052.4(SNAP47):c.251G>A (p.Arg84Gln)	SNAP47 (R129Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3166858	NM_053052.4(SNAP47):c.260G>A (p.Arg87Gln)	SNAP47 (R132Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321109	NM_053052.4(SNAP47):c.283G>A (p.Glu95Lys)	SNAP47 (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166860	NM_053052.4(SNAP47):c.334G>C (p.Ala112Pro)	SNAP47 (A112P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219360	NM_053052.4(SNAP47):c.353G>A (p.Arg118Gln)	SNAP47 (R118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375621	NM_053052.4(SNAP47):c.358G>A (p.Glu120Lys)	SNAP47 (E165K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3166861	NM_053052.4(SNAP47):c.394C>T (p.Arg132Cys)	SNAP47 (R177C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321105	NM_053052.4(SNAP47):c.407C>T (p.Thr136Met)	SNAP47 (T136M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225605	NM_053052.4(SNAP47):c.448G>A (p.Val150Ile)	SNAP47 (V150I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3166863	NM_053052.4(SNAP47):c.555G>C (p.Lys185Asn)	SNAP47 (K230N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238615	NM_053052.4(SNAP47):c.667T>C (p.Ser223Pro)	SNAP47 (S268P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166865	NM_053052.4(SNAP47):c.680C>T (p.Pro227Leu)	SNAP47 (P227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321106	NM_053052.4(SNAP47):c.806G>A (p.Arg269His)	SNAP47 (R314H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213557	NM_053052.4(SNAP47):c.812G>A (p.Arg271Gln)	SNAP47 (R316Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371594	NM_053052.4(SNAP47):c.841C>T (p.Arg281Cys)	SNAP47 (R281C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400432	NM_053052.4(SNAP47):c.842G>A (p.Arg281His)	SNAP47 (R326H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485452	NM_053052.4(SNAP47):c.895A>C (p.Ser299Arg)	SNAP47 (S299R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514515	NM_053052.4(SNAP47):c.904A>G (p.Met302Val)	SNAP47 (M347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166851	NM_053052.4(SNAP47):c.907G>A (p.Glu303Lys)	SNAP47 (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166852	NM_053052.4(SNAP47):c.940G>A (p.Ala314Thr)	SNAP47 (A314T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3166853	NM_053052.4(SNAP47):c.955C>A (p.Pro319Thr)	SNAP47 (P319T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409878	NM_053052.4(SNAP47):c.976G>T (p.Val326Phe)	SNAP47 (V371F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247955	NM_053052.4(SNAP47):c.1024C>A (p.Pro342Thr)	SNAP47 (P387T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461058	NM_053052.4(SNAP47):c.1067C>T (p.Thr356Ile)	SNAP47 (T356I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379498	NM_053052.4(SNAP47):c.1213A>G (p.Thr405Ala)	SNAP47 (T405A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166855	NM_053052.4(SNAP47):c.1238G>A (p.Arg413Lys)	SNAP47 (R413K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166856	NM_053052.4(SNAP47):c.1240C>T (p.Arg414Trp)	SNAP47 (R414W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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