SGCZ[gene] - 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	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 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	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 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	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 148067	GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3	C8orf48, DLC1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 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	TNFRSF10A, TNFRSF10A-DT +920 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 155433	GRCh38/hg38 8p22(chr8:13302159-14802548)x3	LOC132089576, LOC132089577 +29 more	Copy number gain	See cases	GLikely benign
Select item 155597	GRCh38/hg38 8p22(chr8:13417889-14258031)x3	C8orf48, DLC1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58403	GRCh38/hg38 8p22(chr8:13421415-14228782)x3	C8orf48, DLC1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 160963	GRCh38/hg38 8p22(chr8:13544227-14757731)x3	C8orf48, DLC1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 154480	GRCh38/hg38 8p22(chr8:13544227-14757731)x4	C8orf48, DLC1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 150309	GRCh38/hg38 8p22(chr8:13544248-14757736)x3	C8orf48, DLC1 +28 more	Copy number gain	See cases	GLikely benign
Select item 148583	GRCh38/hg38 8p22(chr8:13970816-14283507)x1	LOC132089565, LOC132089566 +14 more	Copy number loss	See cases	GUncertain significance
Select item 1338834	GRCh38/hg38 8p22(chr8:13974643-14229824)	LOC132089565, LOC132089566 +14 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 152379	GRCh38/hg38 8p22(chr8:14047934-14103793)x3	SGCZ	Copy number gain	See cases	GBenign
Select item 153833	GRCh38/hg38 8p22(chr8:14076023-14538216)x1	LOC121294073, LOC132089569 +14 more	Copy number loss	See cases	GUncertain significance
Select item 2462133	NM_139167.4(SGCZ):c.896G>A (p.Gly299Asp)	SGCZ (G184D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160994	NM_139167.4(SGCZ):c.871C>T (p.Leu291Phe)	SGCZ (L250F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220087	NM_139167.4(SGCZ):c.809C>T (p.Ser270Leu)	SGCZ (S236L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240484	NM_139167.4(SGCZ):c.799T>C (p.Ser267Pro)	SGCZ (S152P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474554	NM_139167.4(SGCZ):c.770A>G (p.Lys257Arg)	SGCZ (K142R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334256	NM_139167.4(SGCZ):c.748T>C (p.Phe250Leu)	SGCZ (F135L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221812	NM_139167.4(SGCZ):c.723T>G (p.His241Gln)	SGCZ (H126Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160993	NM_139167.4(SGCZ):c.712A>G (p.Lys238Glu)	SGCZ (K123E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388336	NM_139167.4(SGCZ):c.699G>C (p.Lys233Asn)	SGCZ (K192N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160992	NM_139167.4(SGCZ):c.613G>T (p.Asp205Tyr)	SGCZ (D205Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270386	NM_139167.4(SGCZ):c.587C>T (p.Pro196Leu)	SGCZ (P196L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516880	NM_139167.4(SGCZ):c.559G>A (p.Ala187Thr)	SGCZ (A153T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150555	GRCh38/hg38 8p22(chr8:14123684-14283418)x3	LOC132089572, LOC132089573 +6 more	Copy number gain	See cases	GLikely benign
Select item 3160991	NM_139167.4(SGCZ):c.502G>T (p.Asp168Tyr)	SGCZ (D168Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479367	NM_139167.4(SGCZ):c.421A>G (p.Ile141Val)	SGCZ (I107V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275731	NM_139167.4(SGCZ):c.243G>A (p.Met81Ile)	SGCZ (M7I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334782	NM_139167.4(SGCZ):c.214A>C (p.Lys72Gln)	SGCZ (K72Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536177	NM_139167.4(SGCZ):c.202A>G (p.Ile68Val)	SGCZ (I68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230894	NM_139167.4(SGCZ):c.176C>A (p.Thr59Asn)	SGCZ (T59N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390522	NM_139167.4(SGCZ):c.172G>A (p.Val58Ile)	SGCZ (V58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612133	NM_139167.4(SGCZ):c.171G>T (p.Leu57Phe)	SGCZ (L57F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618073	NM_139167.4(SGCZ):c.147A>C (p.Leu49Phe)	SGCZ (L49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328164	NM_139167.4(SGCZ):c.131G>T (p.Trp44Leu)	SGCZ (W44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311862	NM_139167.4(SGCZ):c.68C>T (p.Thr23Ile)	SGCZ (T23I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145248	GRCh38/hg38 8p22(chr8:14714802-14757672)x1	SGCZ	Copy number loss	See cases	GBenign
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 151537	GRCh38/hg38 8p22(chr8:14940111-14976577)x3	SGCZ	Copy number gain	See cases	GBenign
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063057	GRCh37/hg19 8p22(chr8:13356544-14659874)x3	C8orf48, DLC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063048	GRCh37/hg19 8p22(chr8:13295342-14299171)x1	C8orf48, DLC1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +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 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 2684527	GRCh37/hg19 8p23.1-22(chr8:12560782-13948729)x3	C8orf48, DLC1 +3 more	Copy number gain	not provided	GUncertain significance
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 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 1808738	GRCh37/hg19 8p22(chr8:13975474-14321653)x1	SGCZ	Copy number loss	not provided	GUncertain significance
Select item 1808182	GRCh37/hg19 8p22(chr8:15071971-16717799)x1	MSR1, SGCZ +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +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	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic

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