ClinVar for Gene (Select 29947) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273253	NM_175867.3(DNMT3L):c.661G>C (p.Val221Leu)	DNMT3L (V221L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273252	NM_175867.3(DNMT3L):c.846G>T (p.Trp282Cys)	DNMT3L, DNMT3L-AS1 (W282C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273251	NM_175867.3(DNMT3L):c.305G>C (p.Gly102Ala)	DNMT3L (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273250	NM_175867.3(DNMT3L):c.940G>A (p.Gly314Ser)	DNMT3L (G314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273249	NM_175867.3(DNMT3L):c.325G>A (p.Gly109Arg)	DNMT3L (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273248	NM_175867.3(DNMT3L):c.49G>A (p.Val17Met)	DNMT3L (V17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3248144	NC_000021.8:g.(?_45629566)_(45711113_?)dup	AIRE, DNMT3L +1 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3084823	NM_175867.3(DNMT3L):c.964C>T (p.Arg322Cys)	DNMT3L (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084822	NM_175867.3(DNMT3L):c.85G>A (p.Val29Ile)	DNMT3L (V29I)	Single nucleotide variant (missense variant)	not specified	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	ABCG1, ADAMTS1 +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	ABCG1, ADARB1 +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 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	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652740	NM_175867.3(DNMT3L):c.939C>T (p.His313=)	DNMT3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619978	NM_175867.3(DNMT3L):c.349T>C (p.Tyr117His)	DNMT3L (Y117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619123	NM_175867.3(DNMT3L):c.1016C>T (p.Ser339Leu)	DNMT3L (S340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604774	NM_175867.3(DNMT3L):c.309G>C (p.Glu103Asp)	DNMT3L (E103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544668	NM_175867.3(DNMT3L):c.376G>A (p.Val126Ile)	DNMT3L (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509384	NM_175867.3(DNMT3L):c.392C>T (p.Ser131Leu)	DNMT3L (S131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488399	NM_175867.3(DNMT3L):c.145A>G (p.Ile49Val)	DNMT3L (I49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426106	NC_000021.8:g.(?_45655135)_(45717610_?)dup	AIRE, DNMT3L +1 more	Duplication	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 2395626	NM_175867.3(DNMT3L):c.766C>G (p.Pro256Ala)	DNMT3L (P256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390207	NM_175867.3(DNMT3L):c.760C>T (p.Arg254Cys)	DNMT3L (R254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384248	NM_175867.3(DNMT3L):c.473G>A (p.Arg158Lys)	DNMT3L (R158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377742	NM_175867.3(DNMT3L):c.793C>T (p.Arg265Trp)	DNMT3L, DNMT3L-AS1 (R265W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339806	NM_175867.3(DNMT3L):c.1058C>T (p.Ser353Leu)	DNMT3L (S353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325591	NM_175867.3(DNMT3L):c.275A>G (p.Tyr92Cys)	DNMT3L (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302688	NM_175867.3(DNMT3L):c.644C>T (p.Pro215Leu)	DNMT3L (P215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278347	NM_175867.3(DNMT3L):c.555G>C (p.Trp185Cys)	DNMT3L (W185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263229	NM_175867.3(DNMT3L):c.792C>A (p.His264Gln)	DNMT3L, DNMT3L-AS1 (H264Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2249555	NM_175867.3(DNMT3L):c.480G>T (p.Trp160Cys)	DNMT3L (W160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237497	NM_175867.3(DNMT3L):c.5C>T (p.Ala2Val)	DNMT3L (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231130	NM_175867.3(DNMT3L):c.967G>A (p.Val323Met)	DNMT3L (V323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222116	NM_175867.3(DNMT3L):c.965G>A (p.Arg322His)	DNMT3L (R322H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809380	GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3	AIRE, CFAP410 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down 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 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526723	GRCh37/hg19 21q22.3(chr21:45071606-45703897)	AGPAT3, CSTB +9 more	Copy number gain	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)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, 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 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	LRRC3, PDXK +74 more	Duplication	Cataract 9 multiple types +2 more	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	COL6A2, KRTAP20-3 +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 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	not provided	GUncertain significance
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 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 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
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 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 528316	NC_000021.8:g.(?_45629566)_(46330717_?)dup	AIRE, CFAP410 +26 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443781	GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3	AGPAT3, AIRE +37 more	Copy number gain	See cases	GUncertain significance
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 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
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 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +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)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +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	LOC130066795, LOC130066796 +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 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
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	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic

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