79648[geneid] - 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 150724	GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3	ANGPT2, CSMD1 +32 more	Copy number gain	See cases	GPathogenic
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 208150	NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del	MCPH1, MCPH1-DT +7 more	Deletion	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 152804	GRCh38/hg38 8p23.1(chr8:6303909-6412405)x3	LOC126860289, LOC126860290 +5 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 58958	GRCh38/hg38 8p23.1(chr8:6391161-6451673)x1	LOC123987612, LOC126860290 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1277726	NC_000008.11:g.6406286T>C	MCPH1-DT, MCPH1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1275193	NC_000008.11:g.6406295G>C	MCPH1-DT, MCPH1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1202967	NC_000008.11:g.6406319C>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1212188	NC_000008.11:g.6406364C>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1243287	NC_000008.11:g.6406391A>T	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1247321	NC_000008.11:g.6406418C>T	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1245106	NC_000008.11:g.6406426C>G	MCPH1, MCPH1-DT +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1238897	NC_000008.11:g.6406432G>C	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1192013	NC_000008.11:g.6406494C>T	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1219030	NC_000008.11:g.6406495G>C	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1208879	NC_000008.11:g.6406517T>G	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1179530	NC_000008.11:g.6406522C>T	MCPH1, MCPH1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1247952	NC_000008.11:g.6406552G>T	MCPH1	Single nucleotide variant	not provided	GBenign
Select item 1209160	NC_000008.11:g.6406587C>T	MCPH1	Single nucleotide variant	not provided	GLikely benign
Select item 3456	NC_000008.10:g.(?_6264113)_(6296618_6299587)del	LOC123987612, LOC129999780 +2 more	Deletion	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 363515	NM_024596.4(MCPH1):c.-59G>C	MCPH1	Single nucleotide variant	Primary Microcephaly, Recessive +1 more	GBenign
Select item 363516	NM_024596.5(MCPH1):c.-41A>C	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 910778	NM_024596.5(MCPH1):c.-39G>A	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 597014	NM_024596.5(MCPH1):c.-10G>C	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3050955	NM_024596.5(MCPH1):c.-8C>T	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	MCPH1-related disorder	GLikely benign
Select item 3058778	NM_024596.5(MCPH1):c.-5C>G	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	MCPH1-related disorder	GLikely benign
Select item 1376075	NM_024596.5(MCPH1):c.5C>T (p.Ala2Val)	MCPH1 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989861	NM_024596.5(MCPH1):c.6G>A (p.Ala2=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349440	NM_024596.5(MCPH1):c.7G>T (p.Ala3Ser)	MCPH1 (A3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992552	NM_024596.5(MCPH1):c.9C>G (p.Ala3=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2415593	NM_024596.5(MCPH1):c.9C>T (p.Ala3=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 736556	NM_024596.5(MCPH1):c.15C>T (p.Ile5=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019375	NM_024596.5(MCPH1):c.18G>A (p.Leu6=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982645	NM_024596.5(MCPH1):c.18G>C (p.Leu6=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898186	NM_024596.5(MCPH1):c.22G>A (p.Asp8Asn)	MCPH1 (D8N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777489	NM_024596.5(MCPH1):c.22+2T>C	MCPH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 435838	NM_024596.5(MCPH1):c.22+2_22+4del	MCPH1	Deletion (splice donor variant)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 2833473	NM_024596.5(MCPH1):c.22+8A>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755239	NM_024596.5(MCPH1):c.22+10T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668599	NM_024596.5(MCPH1):c.22+12C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872061	NM_024596.5(MCPH1):c.22+13C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994605	NM_024596.5(MCPH1):c.22+18G>A	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824982	NM_024596.5(MCPH1):c.22+19C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180214	NM_024596.5(MCPH1):c.22+55C>G	LOC129999780, MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829540	NM_024596.5(MCPH1):c.23-829_28del	MCPH1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1215827	NM_024596.5(MCPH1):c.23-233G>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231559	NM_024596.5(MCPH1):c.23-159C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295207	NM_024596.5(MCPH1):c.23-107C>T	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158854	NM_024596.5(MCPH1):c.23-26G>A	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +1 more	GBenign
Select item 2974006	NM_024596.5(MCPH1):c.23-20T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158853	NM_024596.5(MCPH1):c.23-15A>G	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 1654016	NM_024596.5(MCPH1):c.23-12T>C	MCPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970507	NM_024596.5(MCPH1):c.23-11C>G	MCPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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