3377[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 1290643	NM_001376013.1(EPB41):c.-7-249C>A	EPB41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811014	NM_001376013.1(EPB41):c.24G>A (p.Val8=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	Elliptocytosis 1 +1 more	GBenign
Select item 2638582	NM_001376013.1(EPB41):c.33C>G (p.Ala11=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2683705	NM_001376013.1(EPB41):c.34G>A (p.Glu12Lys)	EPB41 (E12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961095	NM_001376013.1(EPB41):c.113C>G (p.Ser38Cys)	EPB41 (S38C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 994251	NM_001376013.1(EPB41):c.120A>G (p.Gln40=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2683706	NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)	EPB41 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048987	NM_001376013.1(EPB41):c.220T>C (p.Ser74Pro)	EPB41 (S74P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983773	NM_001376013.1(EPB41):c.252C>G (p.Ser84=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3046789	NM_001376013.1(EPB41):c.255G>A (p.Ser85=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	EPB41-related disorder	GLikely benign
Select item 2428563	NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)	EPB41 (K88R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2920823	NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)	EPB41 (F118Y)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 2585056	NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)	EPB41 (L139F)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 1330438	NM_001376013.1(EPB41):c.426C>T (p.Asp142=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	Elliptocytosis 1	GLikely benign
Select item 1326496	NM_001376013.1(EPB41):c.427C>G (p.Pro143Ala)	EPB41 (P143A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2638583	NM_001376013.1(EPB41):c.468+4A>T	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2974016	NM_001376013.1(EPB41):c.518_520del (p.Gly173del)	EPB41 (G173del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1900971	NM_001376013.1(EPB41):c.529G>A (p.Glu177Lys)	EPB41 (E177K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1302260	NM_001376013.1(EPB41):c.547G>C (p.Glu183Gln)	EPB41 (E183Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683707	NM_001376013.1(EPB41):c.567del (p.Gln190fs)	EPB41 (Q190fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 618091	NM_001376013.1(EPB41):c.628A>G (p.Met210Val)	EPB41 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 16715	NM_001376013.1(EPB41):c.629T>C (p.Met210Thr)	EPB41 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 16714	NM_001376013.1(EPB41):c.629T>G (p.Met210Arg)	EPB41 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 1302938	NM_001376013.1(EPB41):c.635G>A (p.Cys212Tyr)	EPB41 (C212Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726408	NM_001376013.1(EPB41):c.639G>A (p.Lys213=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811532	NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)	EPB41 (V214I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452977	NM_001376013.1(EPB41):c.640G>C (p.Val214Leu)	EPB41 (V5L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725090	NM_001376013.1(EPB41):c.661G>A (p.Val221Ile)	EPB41 (V12I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 620455	NM_001376013.1(EPB41):c.666T>G (p.Tyr222Ter)	EPB41 (Y13* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3051804	NM_001376013.1(EPB41):c.681+9G>A	EPB41	Single nucleotide variant (intron variant)	EPB41-related disorder	GLikely benign
Select item 1295902	NM_001376013.1(EPB41):c.682-132T>C	EPB41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988104	NM_001376013.1(EPB41):c.682-14G>A	EPB41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324333	NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter)	EPB41 (R238* +1 more)	Single nucleotide variant (nonsense +1 more)	Elliptocytosis 1	GLikely pathogenic
Select item 2579947	NM_001376013.1(EPB41):c.730A>C (p.Asn244His)	EPB41 (N244H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2194273	NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)	EPB41 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 2441251	NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)	EPB41 (I255V +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 2446433	NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)	EPB41 (W256* +1 more)	Single nucleotide variant (nonsense +1 more)	Elliptocytosis 1	GLikely pathogenic
Select item 1608342	NM_001376013.1(EPB41):c.774C>T (p.Asn258=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1476745	NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)	EPB41 (A259V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2729755	NM_001376013.1(EPB41):c.786+3G>A	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806543	NM_001376013.1(EPB41):c.787-11C>T	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2483604	NM_001376013.1(EPB41):c.824T>C (p.Val275Ala)	EPB41 (V66A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618090	NM_001376013.1(EPB41):c.827G>A (p.Arg276His)	EPB41 (R67H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041170	NM_001376013.1(EPB41):c.829+8G>C	EPB41	Single nucleotide variant (intron variant)	EPB41-related disorder	GLikely benign
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2441246	NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)	EPB41 (V243I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GLikely benign
Select item 1163133	NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile)	EPB41 (T248I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2258454	NM_001376013.1(EPB41):c.860A>G (p.Lys287Arg)	EPB41 (K252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618089	NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser)	EPB41 (P82S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2193168	NM_001376013.1(EPB41):c.896A>G (p.Asp299Gly)	EPB41 (D264G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005432	NM_001376013.1(EPB41):c.909T>C (p.Tyr303=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975805	NM_001376013.1(EPB41):c.929G>A (p.Arg310Gln)	EPB41 (R310Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441250	NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)	EPB41 (I104T +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2599276	NM_001376013.1(EPB41):c.950G>A (p.Arg317His)	EPB41 (R317H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441248	NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)	EPB41 (L118I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2568729	NM_001376013.1(EPB41):c.997A>G (p.Ile333Val)	EPB41 (I124V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683708	NM_001376013.1(EPB41):c.1002G>T (p.Gln334His)	EPB41 (Q125H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794866	NM_001376013.1(EPB41):c.1038C>T (p.Gly346=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045835	NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)	EPB41 (V347M +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 3341889	NM_001376013.1(EPB41):c.1059dup (p.Lys354Ter)	EPB41 (K145* +2 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 221297	NM_001376013.1(EPB41):c.1071_1077del (p.Asn358fs)	EPB41 (N323fs +2 more)	Deletion (frameshift variant)	Hereditary elliptocytosis	GPathogenic
Select item 1330393	NM_001376013.1(EPB41):c.1102A>G (p.Met368Val)	EPB41 (M159V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 1182778	NM_001376013.1(EPB41):c.1124+55_1124+56insTT	EPB41	Insertion (intron variant)	not provided	GBenign
Select item 1264148	NM_001376013.1(EPB41):c.1124+73T>G	EPB41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282344	NM_001376013.1(EPB41):c.1125-249T>A	EPB41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1324334	NM_001376013.1(EPB41):c.1175del (p.Lys392fs)	EPB41 (K183fs +2 more)	Deletion (frameshift variant)	Elliptocytosis 1	GLikely pathogenic
Select item 811463	NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys)	EPB41 (Y187C +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 618092	NM_001376013.1(EPB41):c.1222G>A (p.Gly408Arg)	EPB41 (G199R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089364	NM_001376013.1(EPB41):c.1223G>C (p.Gly408Ala)	EPB41 (G408A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239143	NM_001376013.1(EPB41):c.1228G>T (p.Asp410Tyr)	EPB41 (D201Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440049	NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)	EPB41 (R235fs +2 more)	Duplication (frameshift variant)	Elliptocytosis 1	GLikely pathogenic
Select item 1163134	NM_001376013.1(EPB41):c.1331G>A (p.Arg444His)	EPB41 (R235H +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2973575	NM_001376013.1(EPB41):c.1333A>G (p.Ser445Gly)	EPB41 (S236G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689015	NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)	EPB41 (R243W +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 1245550	NM_001376013.1(EPB41):c.1366-233dup	EPB41	Duplication (intron variant)	not provided	GBenign
Select item 2958653	NM_001376013.1(EPB41):c.1366-16_1366-13del	EPB41	Deletion (intron variant)	not provided	GLikely benign
Select item 3067262	NM_001376013.1(EPB41):c.1369G>A (p.Glu457Lys)	EPB41 (E248K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633316	NM_001376013.1(EPB41):c.1411C>T (p.Arg471Ter)	EPB41 (R262* +2 more)	Single nucleotide variant (nonsense)	EPB41-related disorder	GPathogenic
Select item 2441253	NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)	EPB41 (R262Q +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441243	NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)	EPB41 (V272I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 811677	NM_001376013.1(EPB41):c.1464-20T>C	EPB41	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2819907	NM_001376013.1(EPB41):c.1473dup (p.Thr492fs)	EPB41 (T457fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1163135	NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)	EPB41 (A293V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 2964301	NM_001376013.1(EPB41):c.1560T>C (p.Ala520=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498399	NM_001376013.1(EPB41):c.1593C>T (p.Phe531=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352769	NM_001376013.1(EPB41):c.1594G>A (p.Glu532Lys)	EPB41 (E323K +2 more)	Single nucleotide variant (missense variant)	EPB41-related disorder	GUncertain significance
Select item 2444134	NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)	EPB41 (A326V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 1962992	NM_001376013.1(EPB41):c.1612C>A (p.Arg538=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638584	NM_001376013.1(EPB41):c.1629C>T (p.Leu543=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855191	NM_001376013.1(EPB41):c.1636+1G>T	EPB41	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2493921	NM_001376013.1(EPB41):c.1637C>T (p.Ala546Val)	EPB41 (A337V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631490	NM_001376013.1(EPB41):c.1652C>A (p.Ser551Ter)	EPB41 (S341* +4 more)	Single nucleotide variant (nonsense)	EPB41-related disorder	GLikely pathogenic
Select item 1951469	NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)	EPB41 (R344* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1330427	NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln)	EPB41 (R347Q +4 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2317389	NM_001376013.1(EPB41):c.1684C>T (p.Pro562Ser)	EPB41 (P562S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330981	NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)	EPB41 (G357D +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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