18469[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 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 3192693	NM_016353.5(ZDHHC2):c.16C>T (p.Pro6Ser)	LOC129999929, ZDHHC2 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534764	NM_016353.5(ZDHHC2):c.29C>T (p.Ala10Val)	LOC129999929, ZDHHC2 (A10V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495302	NM_016353.5(ZDHHC2):c.61A>G (p.Ile21Val)	LOC129999929, ZDHHC2 (I21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468874	NM_016353.5(ZDHHC2):c.67G>T (p.Val23Leu)	LOC129999929, ZDHHC2 (V23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326585	NM_016353.5(ZDHHC2):c.67G>C (p.Val23Leu)	LOC129999929, ZDHHC2 (V23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524072	NM_016353.5(ZDHHC2):c.80C>G (p.Thr27Ser)	LOC129999929, ZDHHC2 (T27S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2658443	NM_016353.5(ZDHHC2):c.85C>T (p.Leu29=)	LOC129999929, ZDHHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192697	NM_016353.5(ZDHHC2):c.92G>C (p.Gly31Ala)	LOC129999929, ZDHHC2 (G31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264896	NM_016353.5(ZDHHC2):c.92G>T (p.Gly31Val)	LOC129999929, ZDHHC2 (G31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361545	NM_016353.5(ZDHHC2):c.151G>A (p.Glu51Lys)	ZDHHC2 (E51K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211439	NM_016353.5(ZDHHC2):c.151G>C (p.Glu51Gln)	ZDHHC2 (R11P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192692	NM_016353.5(ZDHHC2):c.158T>C (p.Val53Ala)	ZDHHC2 (V8A +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2351484	NM_016353.5(ZDHHC2):c.160G>A (p.Val54Met)	ZDHHC2 (V9M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464473	NM_016353.5(ZDHHC2):c.176A>G (p.Tyr59Cys)	ZDHHC2 (Y59C +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2537791	NM_016353.5(ZDHHC2):c.314A>G (p.Gln105Arg)	ZDHHC2 (Q60R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334246	NM_016353.5(ZDHHC2):c.368C>G (p.Ser123Cys)	ZDHHC2 (S95C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555026	NM_016353.5(ZDHHC2):c.380G>A (p.Arg127Gln)	ZDHHC2 (R127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602197	NM_016353.5(ZDHHC2):c.392G>T (p.Arg131Ile)	ZDHHC2 (R131I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493349	NM_016353.5(ZDHHC2):c.485A>G (p.Asn162Ser)	ZDHHC2 (N117S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335577	NM_016353.5(ZDHHC2):c.581T>G (p.Phe194Cys)	ZDHHC2 (F149C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255359	NM_016353.5(ZDHHC2):c.611A>G (p.Asp204Gly)	ZDHHC2 (D204G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546914	NM_016353.5(ZDHHC2):c.625T>G (p.Phe209Val)	ZDHHC2 (F181V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192695	NM_016353.5(ZDHHC2):c.658A>T (p.Met220Leu)	ZDHHC2 (M192L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541464	NM_016353.5(ZDHHC2):c.721T>C (p.Ser241Pro)	ZDHHC2 (S196P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389298	NM_016353.5(ZDHHC2):c.743G>C (p.Ser248Thr)	ZDHHC2 (S203T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478619	NM_016353.5(ZDHHC2):c.917C>G (p.Ser306Cys)	ZDHHC2 (S306C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334245	NM_016353.5(ZDHHC2):c.931C>G (p.Leu311Val)	ZDHHC2 (L266V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334247	NM_016353.5(ZDHHC2):c.944C>A (p.Ala315Asp)	ZDHHC2 (A270D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318719	NM_016353.5(ZDHHC2):c.953T>G (p.Leu318Arg)	ZDHHC2 (L290R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278385	NM_016353.5(ZDHHC2):c.1028C>T (p.Thr343Met)	ZDHHC2 (T298M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334248	NM_016353.5(ZDHHC2):c.1088T>C (p.Met363Thr)	ZDHHC2 (M363T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403967	NM_016353.5(ZDHHC2):c.1100C>T (p.Thr367Ile)	ZDHHC2 (T339I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684530	GRCh37/hg19 8p22(chr8:16438155-17255355)x3	CNOT7, FGF20 +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 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	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
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980307	GRCh37/hg19 8p22(chr8:17074039-17274709)x1	CNOT7, MTMR7 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687116	GRCh37/hg19 8p22(chr8:16403859-17275458)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686374	GRCh37/hg19 8p22(chr8:16438154-17251297)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic

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