55790[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 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 146566	GRCh38/hg38 8p22-21.3(chr8:18988335-19599269)x3	CSGALNACT1, LOC100128993 +11 more	Copy number gain	See cases	GBenign
Select item 1274315	NM_001354483.2(CSGALNACT1):c.*288C>T	CSGALNACT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3038018	NM_001354483.2(CSGALNACT1):c.*8G>T	CSGALNACT1	Single nucleotide variant (3 prime UTR variant +1 more)	CSGALNACT1-related disorder	GLikely benign
Select item 1373692	NM_001354483.2(CSGALNACT1):c.1593_1594del (p.Lys531fs)	CSGALNACT1 (K531fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 712012	NM_001354483.2(CSGALNACT1):c.1575_1576del (p.Lys526fs)	CSGALNACT1 (K526fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2207262	NM_001354483.2(CSGALNACT1):c.1574A>T (p.Gln525Leu)	CSGALNACT1 (Q525L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1599898	NM_001354483.2(CSGALNACT1):c.1562G>C (p.Arg521Pro)	CSGALNACT1 (R521P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1895547	NM_001354483.2(CSGALNACT1):c.1558C>A (p.Leu520Ile)	CSGALNACT1 (L520I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519757	NM_001354483.2(CSGALNACT1):c.1551G>C (p.Glu517Asp)	CSGALNACT1 (E517D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2601756	NM_001354483.2(CSGALNACT1):c.1548A>G (p.Ile516Met)	CSGALNACT1 (I516M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2142937	NM_001354483.2(CSGALNACT1):c.1547T>C (p.Ile516Thr)	CSGALNACT1 (I516T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1373326	NM_001354483.2(CSGALNACT1):c.1526T>G (p.Met509Arg)	CSGALNACT1 (M509R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002717	NM_001354483.2(CSGALNACT1):c.1518G>A (p.Gln506=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1504968	NM_001354483.2(CSGALNACT1):c.1518G>T (p.Gln506His)	CSGALNACT1 (Q506H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2966295	NM_001354483.2(CSGALNACT1):c.1513G>A (p.Gly505Ser)	CSGALNACT1 (G505S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959868	NM_001354483.2(CSGALNACT1):c.1512C>T (p.His504=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379181	NM_001354483.2(CSGALNACT1):c.1511A>G (p.His504Arg)	CSGALNACT1 (H504R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1919815	NM_001354483.2(CSGALNACT1):c.1500C>T (p.Asn500=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3078007	NM_001354483.2(CSGALNACT1):c.1473G>C (p.Lys491Asn)	CSGALNACT1 (K491N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2021387	NM_001354483.2(CSGALNACT1):c.1465C>A (p.Gln489Lys)	CSGALNACT1 (Q489K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2385550	NM_001354483.2(CSGALNACT1):c.1462G>A (p.Glu488Lys)	CSGALNACT1 (E488K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2064311	NM_001354483.2(CSGALNACT1):c.1461C>T (p.Pro487=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2493565	NM_001354483.2(CSGALNACT1):c.1459C>G (p.Pro487Ala)	CSGALNACT1 (P487A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1275470	NM_001354483.2(CSGALNACT1):c.1449C>T (p.Asp483=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2135397	NM_001354483.2(CSGALNACT1):c.1448A>G (p.Asp483Gly)	CSGALNACT1 (D483G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908258	NM_001354483.2(CSGALNACT1):c.1445T>A (p.Met482Lys)	CSGALNACT1 (M482K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601625	NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His)	CSGALNACT1 (R480H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1507039	NM_001354483.2(CSGALNACT1):c.1427G>A (p.Trp476Ter)	CSGALNACT1 (W476*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1415309	NM_001354483.2(CSGALNACT1):c.1420C>T (p.His474Tyr)	CSGALNACT1 (H474Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1419719	NM_001354483.2(CSGALNACT1):c.1419C>G (p.Phe473Leu)	CSGALNACT1 (F473L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1579962	NM_001354483.2(CSGALNACT1):c.1418T>A (p.Phe473Tyr)	CSGALNACT1 (F473Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2183510	NM_001354483.2(CSGALNACT1):c.1417T>C (p.Phe473Leu)	CSGALNACT1 (F473L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1607495	NM_001354483.2(CSGALNACT1):c.1413A>G (p.Gly471=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2596580	NM_001354483.2(CSGALNACT1):c.1405G>A (p.Val469Met)	CSGALNACT1 (V469M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2017221	NM_001354483.2(CSGALNACT1):c.1402C>G (p.Pro468Ala)	CSGALNACT1 (P468A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1406290	NM_001354483.2(CSGALNACT1):c.1400C>T (p.Thr467Met)	CSGALNACT1 (T467M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2141784	NM_001354483.2(CSGALNACT1):c.1397G>A (p.Arg466Gln)	CSGALNACT1 (R466Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1584802	NM_001354483.2(CSGALNACT1):c.1395A>G (p.Val465=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944794	NM_001354483.2(CSGALNACT1):c.1370A>G (p.Tyr457Cys)	CSGALNACT1 (Y457C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2164097	NM_001354483.2(CSGALNACT1):c.1366A>G (p.Lys456Glu)	CSGALNACT1 (K456E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2223643	NM_001354483.2(CSGALNACT1):c.1364G>A (p.Arg455His)	CSGALNACT1 (R455H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2073842	NM_001354483.2(CSGALNACT1):c.1364G>C (p.Arg455Pro)	CSGALNACT1 (R455P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912591	NM_001354483.2(CSGALNACT1):c.1361A>T (p.Tyr454Phe)	CSGALNACT1 (Y454F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925787	NM_001354483.2(CSGALNACT1):c.1354C>T (p.His452Tyr)	CSGALNACT1 (H452Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004374	NM_001354483.2(CSGALNACT1):c.1351G>A (p.Val451Met)	CSGALNACT1 (V451M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517579	NM_001354483.2(CSGALNACT1):c.1342G>A (p.Gly448Arg)	CSGALNACT1 (G448R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085362	NM_001354483.2(CSGALNACT1):c.1341C>T (p.Gly447=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1545282	NM_001354483.2(CSGALNACT1):c.1341C>A (p.Gly447=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2077037	NM_001354483.2(CSGALNACT1):c.1334G>C (p.Gly445Ala)	CSGALNACT1 (G445A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1672776	NM_001354483.2(CSGALNACT1):c.1329C>T (p.Ile443=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421944	NM_001354483.2(CSGALNACT1):c.1324G>C (p.Asp442His)	CSGALNACT1 (D442H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812837	NM_001354483.2(CSGALNACT1):c.1320T>G (p.Asp440Glu)	CSGALNACT1 (D440E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971945	NM_001354483.2(CSGALNACT1):c.1314G>C (p.Gly438=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533137	NM_001354483.2(CSGALNACT1):c.1310-5G>A	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644376	NM_001354483.2(CSGALNACT1):c.1310-6C>T	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591746	NM_001354483.2(CSGALNACT1):c.1310-17G>C	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245249	NM_001354483.2(CSGALNACT1):c.1309+136_1309+144del	CSGALNACT1	Deletion (intron variant)	not provided	GBenign
Select item 1603803	NM_001354483.2(CSGALNACT1):c.1309+19T>G	CSGALNACT1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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