1346[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1975976	NM_000587.4(C7):c.6+5G>C	C7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1645165	NM_000587.4(C7):c.6+16C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633162	NM_000587.4(C7):c.7-17T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1511712	NM_000587.4(C7):c.7-2A>C	C7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2776014	NM_000587.4(C7):c.9G>A (p.Val3=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385540	NM_000587.4(C7):c.21C>A (p.Phe7Leu)	C7 (F7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717734	NM_000587.4(C7):c.38dup (p.Gly14fs)	C7 (G14fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2089062	NM_000587.4(C7):c.39A>G (p.Ile13Met)	C7 (I13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032717	NM_000587.4(C7):c.39A>T (p.Ile13=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007273	NM_000587.4(C7):c.63-19C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530979	NM_000587.4(C7):c.63-7G>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 12106	NM_000587.4(C7):c.63-1G>A	C7	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1515316	NM_000587.4(C7):c.68C>T (p.Ser23Phe)	C7 (S23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268560	NM_000587.4(C7):c.76G>C (p.Val26Leu)	C7 (V26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1453343	NM_000587.4(C7):c.93del (p.Phe32fs)	C7 (F32fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1390238	NM_000587.4(C7):c.98A>G (p.Tyr33Cys)	C7 (Y33C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2006243	NM_000587.4(C7):c.102C>T (p.Ala34=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525406	NM_000587.4(C7):c.109T>C (p.Ser37Pro)	C7 (S37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921582	NM_000587.4(C7):c.119A>G (p.Asn40Ser)	C7 (N40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924282	NM_000587.4(C7):c.120T>A (p.Asn40Lys)	C7 (N40K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490766	NM_000587.4(C7):c.121G>A (p.Gly41Ser)	C7 (G41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084122	NM_000587.4(C7):c.134C>T (p.Thr45Ile)	C7 (T45I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1411634	NM_000587.4(C7):c.138+3A>G	C7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792842	NM_000587.4(C7):c.138+12C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789738	NM_000587.4(C7):c.139-9T>C	C7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1386649	NM_000587.4(C7):c.139-3T>C	C7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1443105	NM_000587.4(C7):c.140C>T (p.Thr47Ile)	C7 (T47I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2084753	NM_000587.4(C7):c.143G>A (p.Arg48His)	C7 (R48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3136067	NM_000587.4(C7):c.148C>T (p.Arg50Trp)	C7 (R50W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375807	NM_000587.4(C7):c.149G>A (p.Arg50Gln)	C7 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951185	NM_000587.4(C7):c.154G>A (p.Val52Ile)	C7 (V52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474830	NM_000587.4(C7):c.158C>T (p.Ala53Val)	C7 (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112664	NM_000587.4(C7):c.162G>A (p.Val54=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159746	NM_000587.4(C7):c.171G>A (p.Gln57=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1022985	NM_000587.4(C7):c.175G>A (p.Gly59Arg)	C7 (G59R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415417	NM_000587.4(C7):c.176G>A (p.Gly59Glu)	C7 (G59E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169027	NM_000587.4(C7):c.183G>A (p.Gln61=)	C7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1363993	NM_000587.4(C7):c.184C>G (p.Pro62Ala)	C7 (P62A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921620	NM_000587.4(C7):c.191T>C (p.Val64Ala)	C7 (V64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126909	NM_000587.4(C7):c.216C>G (p.Ser72=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076996	NM_000587.4(C7):c.225T>G (p.Pro75=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351707	NM_000587.4(C7):c.229A>G (p.Arg77Gly)	C7 (R77G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136070	NM_000587.4(C7):c.242C>T (p.Thr81Ile)	C7 (T81I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992071	NM_000587.4(C7):c.253del (p.Cys85fs)	C7 (C85fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1107267	NM_000587.4(C7):c.261G>A (p.Glu87=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462860	NM_000587.4(C7):c.262C>T (p.Arg88Cys)	C7 (R88C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650545	NM_000587.4(C7):c.270G>A (p.Arg90=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969391	NM_000587.4(C7):c.280+1G>A	C7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2816543	NM_000587.4(C7):c.280+7T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649868	NM_000587.4(C7):c.280+16T>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975418	NM_000587.4(C7):c.281-19G>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647874	NM_000587.4(C7):c.281-8G>C	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1403365	NM_000587.4(C7):c.281-3C>T	C7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 225308	NM_000587.4(C7):c.281-1G>T	C7	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2880048	NM_000587.4(C7):c.288C>T (p.Cys96=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155851	NM_000587.4(C7):c.289A>G (p.Ile97Val)	C7 (I97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3006918	NM_000587.4(C7):c.291C>T (p.Ile97=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921321	NM_000587.4(C7):c.303G>C (p.Leu101Phe)	C7 (L101F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973499	NM_000587.4(C7):c.315G>C (p.Gly105=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635448	NM_000587.4(C7):c.317del (p.Asp106fs)	C7 (D106fs)	Deletion (frameshift variant)	Complement component 7 deficiency	GPathogenic
Select item 1567190	NM_000587.4(C7):c.321T>C (p.Ser107=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445105	NM_000587.4(C7):c.352A>G (p.Arg118Gly)	C7 (R118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796420	NM_000587.4(C7):c.363C>T (p.Asp121=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817999	NM_000587.4(C7):c.375A>C (p.Arg125Ser)	C7 (R125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190369	NM_000587.4(C7):c.376C>T (p.Pro126Ser)	C7 (P126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351194	NM_000587.4(C7):c.376C>A (p.Pro126Thr)	C7 (P126T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1536723	NM_000587.4(C7):c.378T>C (p.Pro126=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165525	NM_000587.4(C7):c.382T>C (p.Cys128Arg)	C7 (C128R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1660044	NM_000587.4(C7):c.387T>C (p.Asp129=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579130	NM_000587.4(C7):c.390C>T (p.Ile130=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460738	NM_000587.4(C7):c.391G>A (p.Asp131Asn)	C7 (D131N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3262541	NM_000587.4(C7):c.397C>A (p.Pro133Thr)	C7 (P133T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190260	NM_000587.4(C7):c.397CCT[2] (p.Pro135del)	C7 (P135del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 432759	NM_000587.4(C7):c.405del (p.Asn136fs)	C7 (N136fs)	Deletion (frameshift variant)	Complement component 7 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2035793	NM_000587.4(C7):c.420T>C (p.Thr140=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809768	NM_000587.4(C7):c.428+1G>A	C7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1624083	NM_000587.4(C7):c.428+8G>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635246	NM_000587.4(C7):c.428+9C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972359	NM_000587.4(C7):c.428+17C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1083084	NM_000587.4(C7):c.428+17C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642190	NM_000587.4(C7):c.428+18C>G	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943756	NM_000587.4(C7):c.428+20C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539482	NM_000587.4(C7):c.428+20C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827748	NM_000587.4(C7):c.429-20C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919653	NM_000587.4(C7):c.429-17C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744016	NM_000587.4(C7):c.429-14C>A	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557713	NM_000587.4(C7):c.429-10C>T	C7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185623	NM_000587.4(C7):c.429-2A>T	C7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1532008	NM_000587.4(C7):c.432C>T (p.Tyr144=)	C7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1463583	NM_000587.4(C7):c.434A>G (p.Asn145Ser)	C7 (N145S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620626	NM_000587.4(C7):c.444T>C (p.Thr148=)	C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082684	NM_000587.4(C7):c.445G>C (p.Gly149Arg)	C7 (G149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990929	NM_000587.4(C7):c.448C>T (p.Gln150Ter)	C7 (Q150*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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