ClinVar for Gene (Select 23275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216217	NM_133635.6(POFUT2):c.950G>A (p.Arg317His)	POFUT2 (R317H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216216	NM_133635.6(POFUT2):c.635C>G (p.Ala212Gly)	POFUT2 (A212G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216215	NM_133635.6(POFUT2):c.200C>T (p.Ala67Val)	POFUT2 (A67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216214	NM_133635.6(POFUT2):c.1217C>T (p.Thr406Met)	POFUT2 (T406M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
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 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684922	GRCh37/hg19 21q22.3(chr21:46429020-47080985)x3	ADARB1, COL18A1 +4 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 2652789	NM_133635.6(POFUT2):c.849G>A (p.Ala283=)	POFUT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2569133	NM_133635.6(POFUT2):c.604G>A (p.Val202Met)	POFUT2 (V202M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510647	NM_133635.6(POFUT2):c.1046T>C (p.Met349Thr)	POFUT2 (M349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470507	NM_133635.6(POFUT2):c.53C>T (p.Pro18Leu)	POFUT2 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	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 2402041	NM_133635.6(POFUT2):c.7A>G (p.Thr3Ala)	LOC130066850, POFUT2 (T3A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2399787	NM_133635.6(POFUT2):c.568G>A (p.Val190Ile)	POFUT2 (V190I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375221	NM_133635.6(POFUT2):c.710G>A (p.Arg237His)	POFUT2 (R237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373921	NM_133635.6(POFUT2):c.445G>C (p.Glu149Gln)	POFUT2 (E149Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356756	NM_133635.6(POFUT2):c.358A>G (p.Ile120Val)	POFUT2 (I120V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338310	NM_133635.6(POFUT2):c.1042G>A (p.Glu348Lys)	POFUT2 (E348K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332954	NM_133635.6(POFUT2):c.1252G>A (p.Ala418Thr)	POFUT2 (A418T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320038	NM_133635.6(POFUT2):c.689G>A (p.Gly230Glu)	POFUT2 (G230E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283369	NM_133635.6(POFUT2):c.1093G>C (p.Gly365Arg)	POFUT2 (G365R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263919	NM_133635.6(POFUT2):c.437G>A (p.Gly146Glu)	POFUT2 (G146E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232888	NM_133635.6(POFUT2):c.589G>A (p.Gly197Ser)	POFUT2 (G197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223837	NM_133635.6(POFUT2):c.712C>T (p.Arg238Cys)	POFUT2 (R238C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710511	GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1	SUMO3, TRPM2 +32 more	Copy number loss	not provided	GPathogenic
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 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
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 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1412950	NC_000021.8:g.(?_46306283)_(47865240_?)del	MCM3AP, POFUT2 +17 more	Deletion	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP12-3, PDXK +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341271	GRCh37/hg19 21q22.3(chr21:46456779-46892739)x3	POFUT2, ADARB1 +3 more	Copy number gain	not provided	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 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816183	GRCh37/hg19 21q22.3(chr21:46597460-46933696)x4	POFUT2, LINC00334 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 780629	NM_133635.6(POFUT2):c.415G>A (p.Val139Ile)	POFUT2 (V139I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727489	NM_133635.6(POFUT2):c.1137G>A (p.Arg379=)	POFUT2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 718579	NM_133635.6(POFUT2):c.970C>T (p.Arg324Trp)	POFUT2 (R324W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
Select item 686593	GRCh37/hg19 21q22.3(chr21:46569203-46846998)x3	ADARB1, COL18A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 685466	GRCh37/hg19 21q22.3(chr21:46569203-46740333)x4	ADARB1, LINC00315 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635900	Single allele	ADARB1, AGPAT3 +43 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564650	GRCh37/hg19 21q22.3(chr21:46569368-46842469)x3	LINC00334, POFUT2 +3 more	Copy number gain	not provided	GLikely benign
Select item 560066	Single allele	ADARB1, C21orf58 +19 more	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 395383	GRCh37/hg19 21q22.3(chr21:46585679-46839643)x3	ADARB1, COL18A1 +3 more	Copy number gain	See cases	GLikely benign
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +217 more	Copy number gain	See cases	GPathogenic
Select item 253823	GRCh37/hg19 21q22.3(chr21:46624646-46923814)x3	LINC00334, LINC00315 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 253347	GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3	C21orf58, COL18A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 221356	chr21:45970718..47545826 complex variant	ADARB1, COL18A1 +29 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 150671	GRCh38/hg38 21q22.3(chr21:45165766-45411930)x3	ADARB1, BNAT1 +12 more	Copy number gain	See cases	GLikely benign
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic

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