1859[geneid] - 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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 981631	NC_000021.9:g.37347863_37423682del	DYRK1A, LOC130066653	Deletion	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 151059	GRCh38/hg38 21q22.13(chr21:37364925-37368772)x3	DYRK1A, LOC130066653	Copy number gain	See cases	GUncertain significance
Select item 1249958	NM_001347721.2(DYRK1A):c.-324A>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1296230	NM_001347721.2(DYRK1A):c.-161C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 59041	GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1	DSCR10, DSCR4 +31 more	Copy number loss	See cases	GPathogenic
Select item 1236621	NM_001347721.2(DYRK1A):c.-76-9690T>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242994	NM_001347721.2(DYRK1A):c.-76-9646C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1213099	NM_001347721.2(DYRK1A):c.-76-1713A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671429	NM_001347721.2(DYRK1A):c.-76-1479G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679843	NM_001347721.2(DYRK1A):c.-76-1445A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279138	NM_001347721.2(DYRK1A):c.-76-1065A>G	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1201294	NM_001347721.2(DYRK1A):c.-76-211dup	DYRK1A	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1261606	NM_001347721.2(DYRK1A):c.-76-147_-76-144dup	DYRK1A	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2575026	NM_001347721.2(DYRK1A):c.-76-13T>A	DYRK1A	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 679028	NM_001347721.2(DYRK1A):c.-76-12T>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 387313	NM_001347721.2(DYRK1A):c.-37C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388430	NM_001347721.2(DYRK1A):c.-16G>A	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 424477	NM_001347721.2(DYRK1A):c.-1G>A	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1601373	NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala)	DYRK1A (T3A)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 929170	NM_001347721.2(DYRK1A):c.10+3G>C	DYRK1A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2162236	NM_001347721.2(DYRK1A):c.10+5C>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 386994	NM_001347721.2(DYRK1A):c.10+6T>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 507675	NM_001347721.2(DYRK1A):c.10+9A>G	DYRK1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2711139	NM_001347721.2(DYRK1A):c.10+18A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 1268823	NM_001347721.2(DYRK1A):c.10+104_10+106del	DYRK1A	Deletion (intron variant)	not provided	GBenign
Select item 2652654	NM_001347721.2(DYRK1A):c.11-16394C>T	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681714	NM_001347721.2(DYRK1A):c.11-226T>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243639	NM_001347721.2(DYRK1A):c.11-175C>T	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225546	NM_001347721.2(DYRK1A):c.11-40A>C	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096614	NM_001347721.2(DYRK1A):c.11-20C>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 512605	NM_001347721.2(DYRK1A):c.11-17C>T	DYRK1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383616	NM_001347721.2(DYRK1A):c.11-15C>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 420556	NM_001347721.2(DYRK1A):c.11-14_11-13del	DYRK1A	Deletion (intron variant)	not specified	GLikely benign
Select item 2974578	NM_001347721.2(DYRK1A):c.11-12A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 1984451	NM_001347721.2(DYRK1A):c.11-11T>C	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 472241	NM_001347721.2(DYRK1A):c.11-9T>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 1577477	NM_001347721.2(DYRK1A):c.11-7C>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 959254	NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)	DYRK1A (T7A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937033	NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)	DYRK1A (V15I)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 1800652	NM_001347721.2(DYRK1A):c.46C>T (p.Arg16Trp)	DYRK1A (R16W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 472252	NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln)	DYRK1A (R16Q)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 1648347	NM_001347721.2(DYRK1A):c.54A>G (p.Ala18=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 1384283	NM_001347721.2(DYRK1A):c.56C>T (p.Pro19Leu)	DYRK1A (P19L)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome +1 more	GUncertain significance
Select item 2040298	NM_001347721.2(DYRK1A):c.57G>A (p.Pro19=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2040299	NM_001347721.2(DYRK1A):c.60A>G (p.Ser20=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 590046	NM_001347721.2(DYRK1A):c.66A>G (p.Ser22=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2500606	NM_001347721.2(DYRK1A):c.69C>A (p.Phe23Leu)	DYRK1A (F23L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478436	NM_001347721.2(DYRK1A):c.76G>A (p.Ala26Thr)	DYRK1A (A26T)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 860571	NM_001347721.2(DYRK1A):c.78T>A (p.Ala26=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 1493584	NM_001347721.2(DYRK1A):c.87G>C (p.Gln29His)	DYRK1A (Q29H)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2887810	NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)	DYRK1A (M30L +1 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 753870	NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val)	DYRK1A (M30V +1 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 2815363	NM_001347721.2(DYRK1A):c.91G>A (p.Ala31Thr)	DYRK1A (A2T +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 1311471	NM_001347721.2(DYRK1A):c.93T>A (p.Ala31=)	DYRK1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2146226	NM_001347721.2(DYRK1A):c.95G>T (p.Gly32Val)	DYRK1A (G32V +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2842949	NM_001347721.2(DYRK1A):c.96A>T (p.Gly32=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 435008	NM_001347721.2(DYRK1A):c.103C>T (p.Pro35Ser)	DYRK1A (P35S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1311251	NM_001347721.2(DYRK1A):c.117G>T (p.Gln39His)	DYRK1A (Q10H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986239	NM_001347721.2(DYRK1A):c.121A>G (p.Ser41Gly)	DYRK1A (S12G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2959034	NM_001347721.2(DYRK1A):c.122G>C (p.Ser41Thr)	DYRK1A (S41T +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 1371004	NM_001347721.2(DYRK1A):c.127C>A (p.Arg43Ser)	DYRK1A (R43S +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 430291	NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)	DYRK1A (R43C +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome +1 more	GBenign/Likely benign

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