30242[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 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 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	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 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 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 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
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 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 146694	GRCh38/hg38 8p22(chr8:15424539-16122483)x3	LOC129389958, MSR1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 157099	NM_006765.3(TUSC3):c.-2796_138+12173del	TUSC3	Deletion	Normal pregnancy	Gnot provided
Select item 908153	NM_006765.3(TUSC3):c.-358A>G	TUSC3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362292	NM_006765.3(TUSC3):c.-304G>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362293	NM_006765.3(TUSC3):c.-303C>G	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362294	NM_006765.3(TUSC3):c.-289A>G	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362295	NM_006765.3(TUSC3):c.-273G>A	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 910111	NM_006765.3(TUSC3):c.-254C>A	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362296	NM_006765.3(TUSC3):c.-206C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362297	NM_006765.3(TUSC3):c.-197_-195TCT[1]	TUSC3	Microsatellite (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362298	NM_006765.3(TUSC3):c.-191C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 910112	NM_006765.3(TUSC3):c.-190C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362299	NM_006765.3(TUSC3):c.-175_-174CT[1]	TUSC3	Microsatellite (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362300	NM_006765.4(TUSC3):c.-167G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362301	NM_006765.4(TUSC3):c.-159C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362302	NM_006765.4(TUSC3):c.-150C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362303	NM_006765.4(TUSC3):c.-130C>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362304	NM_006765.4(TUSC3):c.-120C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 910997	NM_006765.4(TUSC3):c.-111C>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362305	NM_006765.4(TUSC3):c.-108G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 910998	NM_006765.4(TUSC3):c.-91G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 910999	NM_006765.4(TUSC3):c.-88T>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 362306	NM_006765.4(TUSC3):c.-87C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 911000	NM_006765.4(TUSC3):c.-82A>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 911001	NM_006765.4(TUSC3):c.-51G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362307	NM_006765.4(TUSC3):c.-48C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362308	NM_006765.4(TUSC3):c.-46G>C	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 437170	NM_006765.4(TUSC3):c.-4C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 362309	NM_006765.4(TUSC3):c.3G>A (p.Met1Ile)	TUSC3 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 3042339	NM_006765.4(TUSC3):c.15C>A (p.Gly5=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	TUSC3-related disorder	GLikely benign
Select item 912229	NM_006765.4(TUSC3):c.17C>T (p.Ala6Val)	TUSC3 (A6V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1325580	NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)	TUSC3 (P7S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 912230	NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu)	TUSC3 (S8L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 912231	NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)	TUSC3 (R9G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2555766	NM_006765.4(TUSC3):c.26G>T (p.Arg9Leu)	TUSC3 (R9L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 970406	NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)	TUSC3 (R11G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 547986	NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	TUSC3 (A13V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +3 more	GUncertain significance
Select item 1741031	NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)	TUSC3 (R15Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +1 more	GUncertain significance
Select item 501273	NM_006765.4(TUSC3):c.44G>C (p.Arg15Pro)	TUSC3 (R15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1059475	NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)	TUSC3 (R18Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1710460	NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)	TUSC3 (Y19fs)	Indel (frameshift variant)	Intellectual disability, autosomal recessive 7	GLikely pathogenic
Select item 912232	NM_006765.4(TUSC3):c.62C>G (p.Pro21Arg)	TUSC3 (P21R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 848284	NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)	TUSC3 (G23R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1980008	NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)	TUSC3 (L29F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 588647	NM_006765.4(TUSC3):c.87C>T (p.Leu29=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 504108	NM_006765.4(TUSC3):c.90GCT[5] (p.Leu34dup)	TUSC3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2729886	NM_006765.4(TUSC3):c.93G>C (p.Leu31=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2885589	NM_006765.4(TUSC3):c.94C>T (p.Leu32=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 737155	NM_006765.4(TUSC3):c.105C>T (p.Cys35=)	TUSC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503415	NM_006765.4(TUSC3):c.119dup (p.Gly41fs)	TUSC3 (G41fs)	Duplication (frameshift variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely pathogenic
Select item 3184941	NM_006765.4(TUSC3):c.115G>C (p.Gly39Arg)	TUSC3 (G39R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2013450	NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)	TUSC3 (G39V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1739240	NM_006765.4(TUSC3):c.116G>C (p.Gly39Ala)	TUSC3 (G39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1292295	NM_006765.4(TUSC3):c.138+74G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224112	NM_006765.4(TUSC3):c.138+168G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151994	GRCh38/hg38 8p22(chr8:15545930-15551664)x1	TUSC3	Copy number loss	See cases	GBenign
Select item 145715	GRCh38/hg38 8p22(chr8:15564152-15573816)x1	TUSC3	Copy number loss	See cases	GBenign

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