ClinVar for Gene (Select 389643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301432	NM_001010906.2(NUGGC):c.1049C>A (p.Ala350Asp)	NUGGC (A350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301431	NM_001010906.2(NUGGC):c.17A>G (p.Asp6Gly)	NUGGC (D6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301430	NM_001010906.2(NUGGC):c.2225G>A (p.Gly742Asp)	NUGGC (G742D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202879	NM_001010906.2(NUGGC):c.2377G>A (p.Gly793Arg)	NUGGC (G793R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202878	NM_001010906.2(NUGGC):c.2375C>T (p.Pro792Leu)	NUGGC (P792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202877	NM_001010906.2(NUGGC):c.2371C>A (p.Pro791Thr)	NUGGC (P791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202876	NM_001010906.2(NUGGC):c.2050G>A (p.Glu684Lys)	NUGGC (E684K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202875	NM_001010906.2(NUGGC):c.1942A>G (p.Ile648Val)	NUGGC (I648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202874	NM_001010906.2(NUGGC):c.1873T>C (p.Tyr625His)	NUGGC (Y625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202873	NM_001010906.2(NUGGC):c.1869G>T (p.Trp623Cys)	NUGGC (W623C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202870	NM_001010906.2(NUGGC):c.1531G>A (p.Ala511Thr)	NUGGC (A511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202869	NM_001010906.2(NUGGC):c.139C>G (p.Leu47Val)	NUGGC (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202868	NM_001010906.2(NUGGC):c.1027C>T (p.Arg343Trp)	NUGGC (R343W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	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 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	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 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 2658507	NM_001010906.2(NUGGC):c.765T>C (p.Asp255=)	NUGGC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658506	NM_001010906.2(NUGGC):c.1407G>A (p.Leu469=)	NUGGC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621377	NM_001010906.2(NUGGC):c.1384G>A (p.Val462Met)	NUGGC (V462M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604741	NM_001010906.2(NUGGC):c.1678G>C (p.Ala560Pro)	NUGGC (A560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603372	NM_001010906.2(NUGGC):c.719A>G (p.Glu240Gly)	NUGGC (E240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602897	NM_001010906.2(NUGGC):c.781G>A (p.Ala261Thr)	NUGGC (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600795	NM_001010906.2(NUGGC):c.1612A>G (p.Arg538Gly)	NUGGC (R538G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594223	NM_001010906.2(NUGGC):c.121T>C (p.Ser41Pro)	NUGGC (S41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591069	NM_001010906.2(NUGGC):c.166C>T (p.Arg56Trp)	NUGGC (R56W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590636	NM_001010906.2(NUGGC):c.95G>A (p.Arg32Gln)	NUGGC (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2480999	NM_001010906.2(NUGGC):c.361A>G (p.Ile121Val)	NUGGC (I121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480538	NM_001010906.2(NUGGC):c.1535G>A (p.Cys512Tyr)	NUGGC (C512Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456382	NM_001010906.2(NUGGC):c.692T>A (p.Ile231Asn)	NUGGC (I231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409376	NM_001010906.2(NUGGC):c.2054G>A (p.Arg685Gln)	NUGGC (R685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408044	NM_001010906.2(NUGGC):c.2314C>T (p.Arg772Trp)	NUGGC (R772W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386877	NM_001010906.2(NUGGC):c.2164G>A (p.Val722Met)	NUGGC (V722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380013	NM_001010906.2(NUGGC):c.850G>A (p.Glu284Lys)	NUGGC (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344780	NM_001010906.2(NUGGC):c.1586G>A (p.Arg529His)	NUGGC (R529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325658	NM_001010906.2(NUGGC):c.1772C>T (p.Thr591Met)	NUGGC (T591M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322635	NM_001010906.2(NUGGC):c.1678G>A (p.Ala560Thr)	NUGGC (A560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303209	NM_001010906.2(NUGGC):c.1730T>C (p.Val577Ala)	NUGGC (V577A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300998	NM_001010906.2(NUGGC):c.1694C>T (p.Ala565Val)	NUGGC (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297945	NM_001010906.2(NUGGC):c.59A>G (p.Tyr20Cys)	NUGGC (Y20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291799	NM_001010906.2(NUGGC):c.650T>G (p.Leu217Arg)	NUGGC (L217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291074	NM_001010906.2(NUGGC):c.2249T>C (p.Val750Ala)	NUGGC (V750A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290175	NM_001010906.2(NUGGC):c.656C>T (p.Ala219Val)	NUGGC (A219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287397	NM_001010906.2(NUGGC):c.2031C>G (p.Ile677Met)	NUGGC (I677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285320	NM_001010906.2(NUGGC):c.2281C>A (p.His761Asn)	NUGGC (H761N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282277	NM_001010906.2(NUGGC):c.887A>G (p.Asp296Gly)	NUGGC (D296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257961	NM_001010906.2(NUGGC):c.1475G>A (p.Arg492Gln)	NUGGC (R492Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238140	NM_001010906.2(NUGGC):c.907G>A (p.Glu303Lys)	NUGGC (E303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228993	NM_001010906.2(NUGGC):c.278T>C (p.Ile93Thr)	NUGGC (I93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218014	NM_001010906.2(NUGGC):c.2087G>A (p.Arg696Gln)	NUGGC (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217500	NM_001010906.2(NUGGC):c.1934A>G (p.Glu645Gly)	NUGGC (E645G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215341	NM_001010906.2(NUGGC):c.2354C>G (p.Ser785Cys)	NUGGC (S785C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212745	NM_001010906.2(NUGGC):c.1738C>A (p.Gln580Lys)	NUGGC (Q580K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808101	GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3	CCDC25, CHRNA2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 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 1511682	NC_000008.10:g.(?_27319146)_(28608383_?)dup	CCDC25, CHRNA2 +13 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	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 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
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 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
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442524	GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3	CCDC25, DUSP4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 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 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic

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