100507530[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 152254	GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3	AGPAT5, ANGPT2 +67 more	Copy number gain	See cases	GUncertain significance
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 57380	GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3	AGPAT5, ANGPT2 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153394	GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1	AGPAT5, ANGPT2 +24 more	Copy number loss	See cases	GUncertain significance
Select item 1242366	NM_024596.5(MCPH1):c.2215-249C>A	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906238	NM_024596.5(MCPH1):c.2215-19_2215-16del	MCPH1, MCPH1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979579	NM_024596.5(MCPH1):c.2215-20T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801441	NM_024596.5(MCPH1):c.2215-19_2215-18del	MCPH1, MCPH1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1634659	NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG	MCPH1-AS1, MCPH1	Indel (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3002518	NM_024596.5(MCPH1):c.2215-19A>C	MCPH1-AS1, MCPH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1631780	NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC	MCPH1, MCPH1-AS1	Indel (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 158843	NM_024596.5(MCPH1):c.2215-19A>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 2807816	NM_024596.5(MCPH1):c.2215-15_2215-14del	MCPH1, MCPH1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2843352	NM_024596.5(MCPH1):c.2215-17C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1957917	NM_024596.5(MCPH1):c.2215-12_2215-9del	MCPH1, MCPH1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3005661	NM_024596.5(MCPH1):c.2215-15C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 158842	NM_024596.5(MCPH1):c.2215-15C>G	MCPH1-AS1, MCPH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 3003762	NM_024596.5(MCPH1):c.2215-14T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2834638	NM_024596.5(MCPH1):c.2215-13G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1633483	NM_024596.5(MCPH1):c.2215-12T>G	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1947991	NM_024596.5(MCPH1):c.2215-2_2253dup	MCPH1, MCPH1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2630629	NM_024596.5(MCPH1):c.2215-1G>T	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MCPH1-related disorder	GLikely pathogenic
Select item 2105774	NM_024596.5(MCPH1):c.2215-1_2215delinsTT	MCPH1, MCPH1-AS1	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1324707	NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)	MCPH1, MCPH1-AS1 (R648* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 3003279	NM_024596.5(MCPH1):c.2223A>G (p.Arg741=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 158844	NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign
Select item 2893981	NM_024596.5(MCPH1):c.2244A>C (p.Ala748=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2967023	NM_024596.5(MCPH1):c.2247G>A (p.Gly749=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2369795	NM_024596.5(MCPH1):c.2249C>G (p.Pro750Arg)	MCPH1, MCPH1-AS1 (P657R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2893354	NM_024596.5(MCPH1):c.2250G>A (p.Pro750=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 597712	NM_024596.5(MCPH1):c.2250G>T (p.Pro750=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 908237	NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly)	MCPH1, MCPH1-AS1 (R752G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 1256318	NM_024596.5(MCPH1):c.2255G>A (p.Arg752His)	MCPH1, MCPH1-AS1 (R659H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1485262	NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg)	MCPH1, MCPH1-AS1 (G753R +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 158846	NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 158845	NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 975288	NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)	MCPH1, MCPH1-AS1 (G660R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 158847	NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg)	MCPH1, MCPH1-AS1 (G753R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967907	NM_024596.5(MCPH1):c.2265C>G (p.Leu755=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2731950	NM_024596.5(MCPH1):c.2268T>C (p.Phe756=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2960396	NM_024596.5(MCPH1):c.2271C>T (p.Ala757=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 586141	NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn)	MCPH1, MCPH1-AS1 (D758N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 211447	NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2846801	NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)	MCPH1, MCPH1-AS1 (A668V +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 158849	NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly)	MCPH1, MCPH1-AS1 (A761G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 158848	NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu)	MCPH1-AS1, MCPH1 (A761E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 21702	NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)	MCPH1, MCPH1-AS1 (A761V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 2873170	NM_024596.5(MCPH1):c.2283G>A (p.Ala761=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 158850	NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser)	MCPH1, MCPH1-AS1 (F763S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 2782910	NM_024596.5(MCPH1):c.2292C>T (p.Val764=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2018305	NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu)	MCPH1, MCPH1-AS1 (S765L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 363562	NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp)	MCPH1, MCPH1-AS1 (S765W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 158852	NM_024596.5(MCPH1):c.2295G>A (p.Ser765=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2792542	NM_024596.5(MCPH1):c.2307C>T (p.Ser769=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 426666	NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu)	MCPH1, MCPH1-AS1 (P770L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2014309	NM_024596.5(MCPH1):c.2310C>T (p.Pro770=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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