10[geneid] - 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 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 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 152700	GRCh38/hg38 8p22(chr8:17860010-18406994)x3	ASAH1, ASAH1-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 148753	GRCh38/hg38 8p22(chr8:18081979-18436249)x1	ASAH1, ASAH1-AS1 +7 more	Copy number loss	See cases	GLikely benign
Select item 148250	GRCh38/hg38 8p22(chr8:18081979-18646740)x3	ASAH1, ASAH1-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3298473	NM_000015.3(NAT2):c.51C>G (p.Asn17Lys)	NAT2 (N17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176386	NM_000015.3(NAT2):c.58G>T (p.Asp20Tyr)	NAT2 (D20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387382	NM_000015.3(NAT2):c.176T>A (p.Ile59Asn)	NAT2 (I59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726	NM_000015.3(NAT2):c.191G>A (p.Arg64Gln)	NAT2 (R64Q)	Single nucleotide variant (missense variant)	NAT2-related disorder +1 more	GLikely benign; drug response
Select item 3176350	NM_000015.3(NAT2):c.194G>C (p.Gly65Ala)	NAT2 (G65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249546	NM_000015.3(NAT2):c.194G>T (p.Gly65Val)	NAT2 (G65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479780	NM_000015.3(NAT2):c.241A>G (p.Thr81Ala)	NAT2 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034766	NM_000015.3(NAT2):c.246C>T (p.Ile82=)	NAT2	Single nucleotide variant (synonymous variant)	NAT2-related disorder	GLikely benign
Select item 2234809	NM_000015.3(NAT2):c.247G>T (p.Gly83Cys)	NAT2 (G83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478274	NM_000015.3(NAT2):c.257C>A (p.Thr86Asn)	NAT2 (T86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060182	NM_000015.3(NAT2):c.282C>T (p.Tyr94=)	NAT2	Single nucleotide variant (synonymous variant)	NAT2-related disorder	GBenign
Select item 723	NM_000015.2(NAT2):c.341T>C (p.Ile114Thr)	NAT2 (I114T)	Single nucleotide variant (missense variant)	NAT2-related disorder +1 more	GBenign; drug response
Select item 3176366	NM_000015.3(NAT2):c.346G>A (p.Gly116Ser)	NAT2 (G116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044340	NM_000015.3(NAT2):c.387C>T (p.Ser129=)	NAT2	Single nucleotide variant (synonymous variant)	NAT2-related disorder	GLikely benign
Select item 3176372	NM_000015.3(NAT2):c.406G>C (p.Glu136Gln)	NAT2 (E136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176375	NM_000015.3(NAT2):c.467G>T (p.Arg156Ile)	NAT2 (R156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263523	NM_000015.3(NAT2):c.467G>A (p.Arg156Lys)	NAT2 (R156K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060382	NM_000015.3(NAT2):c.481C>T (p.Leu161=)	NAT2	Single nucleotide variant (synonymous variant)	NAT2-related disorder	GBenign
Select item 3046292	NM_000015.3(NAT2):c.504G>A (p.Gln168=)	NAT2	Single nucleotide variant (synonymous variant)	NAT2-related disorder	GLikely benign
Select item 2496035	NM_000015.3(NAT2):c.505T>C (p.Tyr169His)	NAT2 (Y169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619411	NM_000015.3(NAT2):c.547A>G (p.Lys183Glu)	NAT2 (K183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719326	NM_000015.3(NAT2):c.579G>T (p.Thr193=)	NAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298476	NM_000015.3(NAT2):c.581T>C (p.Leu194Pro)	NAT2 (L194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722	NM_000015.3(NAT2):c.590G>A (p.Arg197Gln)	NAT2 (R197Q)	Single nucleotide variant (missense variant)	NAT2-related disorder +1 more	GBenign; drug response
Select item 783517	NM_000015.3(NAT2):c.609G>T (p.Glu203Asp)	NAT2 (E203D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2277822	NM_000015.3(NAT2):c.698G>C (p.Cys233Ser)	NAT2 (C233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329022	NM_000015.3(NAT2):c.706G>C (p.Gly236Arg)	NAT2 (G236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517151	NM_000015.3(NAT2):c.749C>A (p.Thr250Lys)	NAT2 (T250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298475	NM_000015.3(NAT2):c.769A>T (p.Thr257Ser)	NAT2 (T257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059207	NM_000015.3(NAT2):c.803G>A (p.Arg268Lys)	NAT2 (R268K)	Single nucleotide variant (missense variant)	NAT2-related disorder	GLikely benign
Select item 724	NM_000015.3(NAT2):c.803= (p.Arg268=)	NAT2	Single nucleotide variant (no sequence alteration)	Slow acetylator due to N-acetyltransferase enzyme variant	Gdrug response
Select item 2560996	NM_000015.3(NAT2):c.813T>G (p.Phe271Leu)	NAT2 (F271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176402	NM_000015.3(NAT2):c.823T>A (p.Leu275Met)	NAT2 (L275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308293	NM_000015.3(NAT2):c.835C>A (p.Leu279Ile)	NAT2 (L279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719492	NM_000015.3(NAT2):c.838G>A (p.Val280Met)	NAT2 (V280M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3298474	NM_000015.3(NAT2):c.847C>G (p.Pro283Ala)	NAT2 (P283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725	NM_000015.2(NAT2):c.857G>A (p.Gly286Glu)	NAT2 (G286E)	Single nucleotide variant (missense variant)	Slow acetylator due to N-acetyltransferase enzyme variant	Gdrug response
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684532	GRCh37/hg19 8p22(chr8:17782821-18519318)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2445493	NC_000008.10:g.(?_17915043)_(20112692_?)dup	ASAH1, ASAH1-AS1 +10 more	Duplication	not provided	GUncertain significance
Select item 1808926	GRCh37/hg19 8p22(chr8:18048191-18471418)x3	NAT1, NAT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance

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