3511[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 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 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 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 57848	GRCh38/hg38 1q43(chr1:240553438-242475553)x3	BECN2, CHML +29 more	Copy number gain	See cases	GUncertain significance
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 155665	GRCh38/hg38 1q43(chr1:241820063-242545979)x1	BECN2, EXO1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2373703	NM_130398.4(EXO1):c.73C>A (p.Gln25Lys)	EXO1 (Q25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767769	NM_130398.4(EXO1):c.99C>T (p.Cys33=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090995	NM_130398.4(EXO1):c.119T>C (p.Ile40Thr)	EXO1 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 546633	NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer)	EXO1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 756923	NM_130398.4(EXO1):c.161+8T>C	EXO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767770	NM_130398.4(EXO1):c.162-3T>C	EXO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2394133	NM_130398.4(EXO1):c.217C>T (p.Pro73Ser)	EXO1 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784980	NM_130398.4(EXO1):c.226G>A (p.Val76Ile)	EXO1 (V76I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782400	NM_130398.4(EXO1):c.277A>G (p.Arg93Gly)	EXO1 (R93G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1205862	NM_130398.4(EXO1):c.325G>A (p.Glu109Lys)	EXO1 (E109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745638	NM_130398.4(EXO1):c.339G>A (p.Ser113=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3090999	NM_130398.4(EXO1):c.377C>T (p.Thr126Ile)	EXO1 (T126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369392	NM_130398.4(EXO1):c.413G>A (p.Arg138Gln)	EXO1 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276746	NM_130398.4(EXO1):c.419A>G (p.Gln140Arg)	EXO1 (Q140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053059	NM_130398.4(EXO1):c.435C>G (p.Leu145=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 2389514	NM_130398.4(EXO1):c.436G>A (p.Val146Met)	EXO1 (V146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672390	NM_130398.4(EXO1):c.458C>T (p.Ala153Val)	EXO1 (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2266793	NM_130398.4(EXO1):c.494A>G (p.Gln165Arg)	EXO1 (Q165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050624	NM_130398.4(EXO1):c.546A>G (p.Val182=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 2245612	NM_130398.4(EXO1):c.548T>C (p.Ile183Thr)	EXO1 (I183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245613	NM_130398.4(EXO1):c.555G>T (p.Lys185Asn)	EXO1 (K185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042701	NM_130398.4(EXO1):c.570A>G (p.Gly190=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 2383418	NM_130398.4(EXO1):c.632C>T (p.Thr211Met)	EXO1 (T211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091000	NM_130398.4(EXO1):c.647G>A (p.Arg216His)	EXO1 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407795	NM_130398.4(EXO1):c.701G>T (p.Gly234Val)	EXO1 (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091001	NM_130398.4(EXO1):c.721G>C (p.Val241Leu)	EXO1 (V241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245266	NM_130398.4(EXO1):c.742C>T (p.Pro248Ser)	EXO1 (P248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033692	NM_130398.4(EXO1):c.745G>A (p.Asp249Asn)	EXO1 (D249N)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 981839	NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)	EXO1 (G274R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3038266	NM_130398.4(EXO1):c.836A>G (p.Asn279Ser)	EXO1 (N279S)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3091002	NM_130398.4(EXO1):c.839A>G (p.Asn280Ser)	EXO1 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730662	NM_130398.4(EXO1):c.896A>G (p.Asn299Ser)	EXO1 (N299S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3058501	NM_130398.4(EXO1):c.942G>T (p.Gly314=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 2273318	NM_130398.4(EXO1):c.1001C>G (p.Thr334Ser)	EXO1 (T334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090994	NM_130398.4(EXO1):c.1033A>G (p.Thr345Ala)	EXO1 (T345A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060962	NM_130398.4(EXO1):c.1061A>G (p.His354Arg)	EXO1 (H354R)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 2608014	NM_130398.4(EXO1):c.1115A>G (p.His372Arg)	EXO1 (H372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326815	NM_130398.4(EXO1):c.1150G>C (p.Val384Leu)	EXO1 (V384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057247	NM_130398.4(EXO1):c.1268C>A (p.Ala423Glu)	EXO1 (A423E)	Single nucleotide variant (missense variant +1 more)	EXO1-related disorder	GLikely benign
Select item 3059408	NM_130398.4(EXO1):c.1316C>T (p.Thr439Met)	EXO1 (T438M +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 2249705	NM_130398.4(EXO1):c.1349A>G (p.Asn450Ser)	EXO1 (N450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338973	NM_130398.4(EXO1):c.1361G>A (p.Ser454Asn)	EXO1 (S453N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057863	NM_130398.4(EXO1):c.1364T>C (p.Phe455Ser)	EXO1 (F454S +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3046284	NM_130398.4(EXO1):c.1367C>A (p.Ser456Tyr)	EXO1 (S455Y +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3055545	NM_130398.4(EXO1):c.1372G>A (p.Val458Met)	EXO1 (V457M +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3056363	NM_130398.4(EXO1):c.1378G>C (p.Val460Leu)	EXO1 (V459L +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 2343660	NM_130398.4(EXO1):c.1508G>C (p.Arg503Thr)	EXO1 (R502T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383785	NM_130398.4(EXO1):c.1515G>T (p.Arg505Ser)	EXO1 (R505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526857	NM_130398.4(EXO1):c.1583C>G (p.Thr528Ser)	EXO1 (T528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090996	NM_130398.4(EXO1):c.1595A>G (p.Asp532Gly)	EXO1 (D531G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269601	NM_130398.4(EXO1):c.1597A>G (p.Lys533Glu)	EXO1 (K533E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274439	NM_130398.4(EXO1):c.1660G>T (p.Asp554Tyr)	EXO1 (D553Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400131	NM_130398.4(EXO1):c.1669C>T (p.Arg557Cys)	EXO1 (R557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046024	NM_130398.4(EXO1):c.1670G>A (p.Arg557His)	EXO1 (R556H +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3049367	NM_130398.4(EXO1):c.1692G>A (p.Pro564=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3059609	NM_130398.4(EXO1):c.1765G>A (p.Glu589Lys)	EXO1 (E588K +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3055741	NM_130398.4(EXO1):c.1776A>G (p.Lys592=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3057062	NM_130398.4(EXO1):c.1828A>G (p.Ser610Gly)	EXO1 (S609G +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 2640209	NM_130398.4(EXO1):c.1863G>A (p.Thr621=)	EXO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049917	NM_130398.4(EXO1):c.1901G>A (p.Arg634Gln)	EXO1 (R633Q +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GLikely benign
Select item 3034193	NM_130398.4(EXO1):c.1911C>T (p.Ser637=)	EXO1	Single nucleotide variant (synonymous variant)	EXO1-related disorder	GLikely benign
Select item 3039051	NM_130398.4(EXO1):c.1918C>G (p.Pro640Ala)	EXO1 (P639A +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 3037353	NM_130398.4(EXO1):c.1918C>T (p.Pro640Ser)	EXO1 (P639S +1 more)	Single nucleotide variant (missense variant)	EXO1-related disorder	GBenign
Select item 2281975	NM_130398.4(EXO1):c.1925C>G (p.Ser642Cys)	EXO1 (S641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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