ClinVar for Gene (Select 1476) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061122	NM_000100.4(CSTB):c.219C>T (p.Leu73=)	CSTB	Single nucleotide variant (synonymous variant)	CSTB-related condition	GLikely benign
Select item 3009560	NM_000100.4(CSTB):c.168+19G>T	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2965768	NM_000100.4(CSTB):c.144C>T (p.Val48=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2879355	NM_000100.4(CSTB):c.66+15G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2751069	NM_000100.4(CSTB):c.66+10C>A	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684921	GRCh37/hg19 21q22.3(chr21:44968648-45268475)x3	CSTB, HSF2BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684920	GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3	AGPAT3, AIRE +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2428833	NM_000100.4(CSTB):c.40G>T (p.Ala14Ser)	CSTB, LOC130066788 (A14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2201814	NM_000100.4(CSTB):c.168+6G>C	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2182112	NM_000100.4(CSTB):c.111G>A (p.Val37=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2173065	NM_000100.4(CSTB):c.207G>T (p.Val69=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2168137	NM_000100.4(CSTB):c.15G>A (p.Ala5=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2152912	NM_000100.4(CSTB):c.66+3G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2149845	NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)	CSTB (K39R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2139270	NM_000100.4(CSTB):c.66+14G>A	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2129691	NM_000100.4(CSTB):c.66+11C>T	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2128037	NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)	CSTB (D63E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2078442	NM_000100.4(CSTB):c.168+7T>C	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2062609	NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)	CSTB (Q46R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2055402	NM_000100.4(CSTB):c.169-13G>A	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1965913	NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)	CSTB, LOC130066788 (A12T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1923544	NM_000100.4(CSTB):c.168+5A>G	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1898278	NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)	CSTB, LOC130066788 (P6L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1807163	NM_000100.4(CSTB):c.145del (p.Ala49fs)	CSTB (A49fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 1791620	NM_000100.4(CSTB):c.246_247del (p.Leu82fs)	CSTB (L82fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1769309	NM_000100.4(CSTB):c.129C>G (p.Phe43Leu)	CSTB (F43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1652345	NM_000100.4(CSTB):c.42C>G (p.Ala14=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1648069	NM_000100.4(CSTB):c.66+20G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1637839	NM_000100.4(CSTB):c.135C>T (p.Ser45=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1584661	NM_000100.4(CSTB):c.169-10C>G	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1546752	NM_000100.4(CSTB):c.264C>T (p.Asn88=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1526723	GRCh37/hg19 21q22.3(chr21:45071606-45703897)	AGPAT3, CSTB +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526722	GRCh37/hg19 21q22.3(chr21:44850469-45257348)	CSTB, HSF2BP +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1507113	NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)	CSTB	Single nucleotide variant (stop lost)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1486165	NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)	CSTB (A49E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1479565	NM_000100.4(CSTB):c.196C>T (p.His66Tyr)	CSTB (H66Y)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1472370	NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)	CSTB, LOC130066788 (T9K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1455136	NM_000100.4(CSTB):c.121del (p.Val41fs)	CSTB (V41fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy	GPathogenic
Select item 1450585	NM_000100.4(CSTB):c.96_98del (p.Asn32del)	CSTB (N32del)	Deletion (inframe_deletion)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1443033	NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)	CSTB (E62K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1436616	NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)	CSTB, LOC130066788 (C3W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-2, SIK1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 1401706	NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)	CSTB (P79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1395020	NM_000100.4(CSTB):c.168+13C>T	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1380284	NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)	CSTB, LOC130066788 (P6A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1347664	NM_000100.4(CSTB):c.160T>G (p.Phe54Val)	CSTB (F54V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1308695	NM_000100.4(CSTB):c.178G>A (p.Gly60Ser)	CSTB (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306155	NM_000100.4(CSTB):c.224A>G (p.His75Arg)	CSTB (H75R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1245387	NC_000021.9:g.43776444CGCGGGGCGGGG[2]	CSTB, LOC109029533 +1 more	Microsatellite	not provided	GBenign
Select item 1223821	NM_000100.4(CSTB):c.67-12C>T	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1219722	NM_000100.4(CSTB):c.168+53C>T	CSTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218718	NC_000021.9:g.43776491C>T	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign
Select item 1214309	NM_000100.4(CSTB):c.66+169A>T	CSTB, LOC130066788	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212314	NM_000100.4(CSTB):c.67-324G>A	CSTB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209247	NC_000021.9:g.43773924_43773925del	CSTB	Deletion	not provided	GLikely benign
Select item 1208604	NM_000100.4(CSTB):c.*19C>T	CSTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1199992	NC_000021.9:g.43773905del	CSTB	Deletion	not provided	GLikely benign
Select item 1187020	NC_000021.9:g.43776507G>A	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign
Select item 1179990	NM_000100.4(CSTB):c.36C>T (p.Ala12=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1175423	NC_000021.9:g.43776481A>G	CSTB, LOC130066788	Single nucleotide variant	not provided	GBenign
Select item 1174239	NC_000021.9:g.43776393T>C	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign
Select item 1155699	NM_000100.4(CSTB):c.177C>T (p.Val59=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1153455	NM_000100.4(CSTB):c.246A>G (p.Leu82=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1145727	NM_000100.4(CSTB):c.67-10T>G	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1142711	NM_000100.4(CSTB):c.33G>A (p.Pro11=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1134631	NM_000100.4(CSTB):c.243C>T (p.Thr81=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1126007	NM_000100.4(CSTB):c.39C>G (p.Thr13=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1110455	NM_000100.4(CSTB):c.201G>A (p.Leu67=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1109460	NM_000100.4(CSTB):c.168+8G>A	CSTB	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1095761	NM_000100.4(CSTB):c.273G>A (p.Lys91=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1095605	NM_000100.4(CSTB):c.147G>A (p.Ala49=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1090993	NM_000100.4(CSTB):c.192C>T (p.Phe64=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1087188	NM_000100.4(CSTB):c.294C>T (p.Phe98=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1074795	NC_000021.8:g.(?_45194083)_(45196150_?)del	CSTB	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1055976	NC_000021.8:g.(?_44838130)_(45196150_?)dup	CSTB, HSF2BP +3 more	Duplication	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 1036373	NM_000100.4(CSTB):c.21C>A (p.Ser7=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1023817	NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)	CSTB, LOC130066788 (T16I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance

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