1291[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145108	GRCh38/hg38 21q22.12(chr21:36125853-36227968)x3	CBR1-AS1, CBR3 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 2543325	NM_001320714.2(DOP1B):c.10G>A (p.Glu4Lys)	DOP1B (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456605	NM_001320714.2(DOP1B):c.66A>C (p.Glu22Asp)	DOP1B (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085388	NM_001320714.2(DOP1B):c.92C>T (p.Ser31Leu)	DOP1B (S31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612621	NM_001320714.2(DOP1B):c.299C>T (p.Ala100Val)	DOP1B (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085312	NM_001320714.2(DOP1B):c.337C>T (p.Leu113Phe)	DOP1B (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085317	NM_001320714.2(DOP1B):c.350C>T (p.Ala117Val)	DOP1B (A117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085318	NM_001320714.2(DOP1B):c.359C>T (p.Ser120Leu)	DOP1B (S120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085319	NM_001320714.2(DOP1B):c.361G>T (p.Val121Leu)	DOP1B (V121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273517	NM_001320714.2(DOP1B):c.367C>G (p.Pro123Ala)	DOP1B (P123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085323	NM_001320714.2(DOP1B):c.370G>C (p.Val124Leu)	DOP1B (V124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 2469635	NM_001320714.2(DOP1B):c.494C>T (p.Thr165Met)	DOP1B (T165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085354	NM_001320714.2(DOP1B):c.502C>G (p.Leu168Val)	DOP1B (L168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567258	NM_001320714.2(DOP1B):c.550G>A (p.Ala184Thr)	DOP1B (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771534	NM_001320714.2(DOP1B):c.563G>A (p.Ser188Asn)	DOP1B (S188N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085366	NM_001320714.2(DOP1B):c.565G>A (p.Val189Ile)	DOP1B (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085368	NM_001320714.2(DOP1B):c.584T>C (p.Ile195Thr)	DOP1B (I195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540193	NM_001320714.2(DOP1B):c.607G>A (p.Val203Met)	DOP1B (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652640	NM_001320714.2(DOP1B):c.636C>T (p.Pro212=)	DOP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085376	NM_001320714.2(DOP1B):c.643G>A (p.Glu215Lys)	DOP1B (E215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085377	NM_001320714.2(DOP1B):c.657G>A (p.Met219Ile)	DOP1B (M219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085383	NM_001320714.2(DOP1B):c.695G>A (p.Arg232His)	DOP1B (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085384	NM_001320714.2(DOP1B):c.763C>G (p.Pro255Ala)	DOP1B (P255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085385	NM_001320714.2(DOP1B):c.788A>G (p.Asn263Ser)	DOP1B (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712656	NM_001320714.2(DOP1B):c.815C>A (p.Ser272Tyr)	DOP1B (S272Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085386	NM_001320714.2(DOP1B):c.823G>A (p.Val275Met)	DOP1B (V275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085387	NM_001320714.2(DOP1B):c.841G>A (p.Ala281Thr)	DOP1B (A281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273538	NM_001320714.2(DOP1B):c.925A>G (p.Thr309Ala)	DOP1B (T309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568907	NM_001320714.2(DOP1B):c.953A>G (p.Asn318Ser)	DOP1B (N318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273532	NM_001320714.2(DOP1B):c.968A>G (p.Gln323Arg)	DOP1B (Q323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273539	NM_001320714.2(DOP1B):c.971C>T (p.Ser324Leu)	DOP1B (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688969	NM_001320714.2(DOP1B):c.1029A>G (p.Ile343Met)	DOP1B (I343M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273525	NM_001320714.2(DOP1B):c.1063G>A (p.Glu355Lys)	DOP1B (E355K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511978	NM_001320714.2(DOP1B):c.1066C>T (p.Arg356Cys)	DOP1B (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085271	NM_001320714.2(DOP1B):c.1141G>T (p.Val381Phe)	DOP1B (V381F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085272	NM_001320714.2(DOP1B):c.1216C>G (p.Leu406Val)	DOP1B (L406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445998	NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410fs)	DOP1B (Q410fs)	Deletion (frameshift variant)	Keratoconus	GUncertain significance
Select item 2462665	NM_001320714.2(DOP1B):c.1292C>T (p.Thr431Met)	DOP1B (T431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085273	NM_001320714.2(DOP1B):c.1349G>A (p.Arg450Lys)	DOP1B (R450K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273522	NM_001320714.2(DOP1B):c.1360G>A (p.Glu454Lys)	DOP1B (E454K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085274	NM_001320714.2(DOP1B):c.1384C>T (p.Arg462Cys)	DOP1B (R462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085275	NM_001320714.2(DOP1B):c.1393G>A (p.Val465Met)	DOP1B (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771535	NM_001320714.2(DOP1B):c.1417C>G (p.Pro473Ala)	DOP1B (P473A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085276	NM_001320714.2(DOP1B):c.1427C>T (p.Ser476Leu)	DOP1B (S476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085277	NM_001320714.2(DOP1B):c.1433T>C (p.Leu478Pro)	DOP1B (L478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273535	NM_001320714.2(DOP1B):c.1489G>A (p.Val497Met)	DOP1B (V497M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549034	NM_001320714.2(DOP1B):c.1496C>T (p.Thr499Ile)	DOP1B (T499I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737617	NM_001320714.2(DOP1B):c.1497C>T (p.Thr499=)	DOP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273533	NM_001320714.2(DOP1B):c.1508C>T (p.Pro503Leu)	DOP1B (P503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085278	NM_001320714.2(DOP1B):c.1519G>A (p.Gly507Ser)	DOP1B (G507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542505	NM_001320714.2(DOP1B):c.1573C>A (p.Leu525Ile)	DOP1B (L525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490552	NM_001320714.2(DOP1B):c.1577C>T (p.Thr526Met)	DOP1B (T526M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652641	NM_001320714.2(DOP1B):c.1593G>A (p.Thr531=)	DOP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085279	NM_001320714.2(DOP1B):c.1664C>T (p.Ser555Leu)	DOP1B (S555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273534	NM_001320714.2(DOP1B):c.1669C>T (p.Pro557Ser)	DOP1B (P557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085281	NM_001320714.2(DOP1B):c.1673T>G (p.Val558Gly)	DOP1B (V558G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085280	NM_001320714.2(DOP1B):c.1673T>A (p.Val558Glu)	DOP1B (V558E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085282	NM_001320714.2(DOP1B):c.1723G>A (p.Gly575Ser)	DOP1B (G575S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273531	NM_001320714.2(DOP1B):c.1729G>A (p.Glu577Lys)	DOP1B (E577K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085283	NM_001320714.2(DOP1B):c.1739C>T (p.Ser580Leu)	DOP1B (S580L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273518	NM_001320714.2(DOP1B):c.1783G>A (p.Ala595Thr)	DOP1B (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085284	NM_001320714.2(DOP1B):c.1787C>T (p.Ser596Leu)	DOP1B (S596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508382	NM_001320714.2(DOP1B):c.1843G>A (p.Asp615Asn)	DOP1B (D615N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085285	NM_001320714.2(DOP1B):c.1861G>A (p.Gly621Arg)	DOP1B (G621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781905	NM_001320714.2(DOP1B):c.1902C>T (p.Ile634=)	DOP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779475	NM_001320714.2(DOP1B):c.1946C>T (p.Ala649Val)	DOP1B (A649V)	Single nucleotide variant (missense variant)	not provided	GBenign

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