6307[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	GUncertain significance
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 1240965	NM_006745.5(MSMO1):c.-31-318C>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270307	NM_006745.5(MSMO1):c.-31-139C>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2047094	NM_006745.5(MSMO1):c.13G>C (p.Glu5Gln)	MSMO1 (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3211979	NM_006745.5(MSMO1):c.15A>T (p.Glu5Asp)	MSMO1 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405149	NM_006745.5(MSMO1):c.31A>C (p.Ser11Arg)	MSMO1 (S11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211993	NM_006745.5(MSMO1):c.38C>T (p.Ala13Val)	MSMO1 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532355	NM_006745.5(MSMO1):c.144G>T (p.Gln48His)	MSMO1 (Q48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2067401	NM_006745.5(MSMO1):c.156G>C (p.Trp52Cys)	MSMO1 (W52C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956304	NM_006745.5(MSMO1):c.168A>G (p.Ile56Met)	MSMO1 (I56M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191614	NM_006745.5(MSMO1):c.179C>G (p.Ala60Gly)	MSMO1 (A60G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3012308	NM_006745.5(MSMO1):c.195C>A (p.Phe65Leu)	MSMO1 (F65L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278279	NM_006745.5(MSMO1):c.255+176A>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267620	NM_006745.5(MSMO1):c.255+196A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252181	NM_006745.5(MSMO1):c.256-36G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902633	NM_006745.5(MSMO1):c.256-4G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2162812	NM_006745.5(MSMO1):c.282A>G (p.Gln94=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2517183	NM_006745.5(MSMO1):c.284G>C (p.Trp95Ser)	MSMO1 (W95S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 742157	NM_006745.5(MSMO1):c.296A>G (p.Lys99Arg)	MSMO1 (K99R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 728211	NM_006745.5(MSMO1):c.303T>C (p.Leu101=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1933646	NM_006745.5(MSMO1):c.306C>T (p.Leu102=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2067304	NM_006745.5(MSMO1):c.315C>A (p.His105Gln)	MSMO1 (H105Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1943548	NM_006745.5(MSMO1):c.352T>C (p.Tyr118His)	MSMO1 (Y118H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 783431	NM_006745.5(MSMO1):c.371A>G (p.Asn124Ser)	MSMO1 (N124S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1666596	NM_006745.5(MSMO1):c.372T>C (p.Asn124=)	MSMO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 728609	NM_006745.5(MSMO1):c.376C>G (p.Pro126Ala)	MSMO1 (P126A)	Single nucleotide variant (5 prime UTR variant +1 more)	MSMO1-related disorder +1 more	GBenign
Select item 1296795	NM_006745.5(MSMO1):c.404+72C>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271414	NM_006745.5(MSMO1):c.405-323T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250037	NM_006745.5(MSMO1):c.405-297T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237807	NM_006745.5(MSMO1):c.405-161C>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291762	NM_006745.5(MSMO1):c.405-85T>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006513	NM_006745.5(MSMO1):c.405-20A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965158	NM_006745.5(MSMO1):c.405-15A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539566	NM_006745.5(MSMO1):c.405-10dup	MSMO1	Duplication (intron variant)	not provided	GBenign
Select item 1608497	NM_006745.5(MSMO1):c.405-9A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1427351	NM_006745.5(MSMO1):c.411T>A (p.Phe137Leu)	MSMO1 (F137L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395290	NM_006745.5(MSMO1):c.443T>C (p.Ile148Thr)	MSMO1 (I148T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057165	NM_006745.5(MSMO1):c.449A>T (p.Asp150Val)	MSMO1 (D150V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3211999	NM_006745.5(MSMO1):c.458A>C (p.His153Pro)	MSMO1 (H153P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222974	NM_006745.5(MSMO1):c.519T>A (p.His173Gln)	MSMO1 (H173Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	GPathogenic
Select item 1903439	NM_006745.5(MSMO1):c.531+15T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264091	NM_006745.5(MSMO1):c.532-129T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1665139	NM_006745.5(MSMO1):c.532-16T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698464	NM_006745.5(MSMO1):c.532-11G>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2457302	NM_006745.5(MSMO1):c.532G>A (p.Ala178Thr)	MSMO1 (A178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520754	NM_006745.5(MSMO1):c.536C>T (p.Pro179Leu)	MSMO1 (P179L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006698	NM_006745.5(MSMO1):c.587G>C (p.Gly196Ala)	MSMO1 (G196A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205564	NM_006745.5(MSMO1):c.602T>C (p.Ile201Thr)	MSMO1 (I201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1408530	NM_006745.5(MSMO1):c.608_609delinsCT (p.Ile203Thr)	MSMO1 (I72T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 731275	NM_006745.5(MSMO1):c.610G>A (p.Val204Met)	MSMO1 (V73M +1 more)	Single nucleotide variant (missense variant)	MSMO1-related disorder +1 more	GBenign/Likely benign
Select item 1908721	NM_006745.5(MSMO1):c.659G>A (p.Arg220His)	MSMO1 (R89H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273975	NM_006745.5(MSMO1):c.686+62A>G	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274241	NM_006745.5(MSMO1):c.686+82G>T	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296799	NM_006745.5(MSMO1):c.686+273T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251572	NM_006745.5(MSMO1):c.687-208_687-207insA	MSMO1	Insertion (intron variant)	not provided	GBenign
Select item 1278904	NM_006745.5(MSMO1):c.687-162C>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238593	NM_006745.5(MSMO1):c.687-39G>A	MSMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880012	NM_006745.5(MSMO1):c.687-12T>C	MSMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081345	NM_006745.5(MSMO1):c.707A>G (p.Asn236Ser)	MSMO1 (N105S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222975	NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys)	MSMO1 (Y244C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 222976	NM_006745.5(MSMO1):c.736G>C (p.Gly246Arg)	MSMO1 (G115R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	GPathogenic
Select item 1415224	NM_006745.5(MSMO1):c.818G>A (p.Gly273Glu)	MSMO1 (G273E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751078	NM_006745.5(MSMO1):c.821C>T (p.Thr274Ile)	MSMO1 (T143I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229277	NM_006745.5(MSMO1):c.831G>A (p.Gln277=)	MSMO1	Single nucleotide variant (synonymous variant)	MSMO1-related disorder +1 more	GBenign
Select item 1228721	NM_006745.5(MSMO1):c.*115A>G	MSMO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280274	NM_006745.5(MSMO1):c.*242A>G	MSMO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1808190	GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)x1	ANP32C, CPE +14 more	Copy number loss	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	AADAT, ADAM29 +36 more	Copy number gain	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	FNIP2, MSMO1 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic

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