4976[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 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 897928	NM_001352514.2(HLCS):c.*3253C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339909	NM_001352514.2(HLCS):c.*3247A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339910	NM_001352514.2(HLCS):c.*3226dup	HLCS	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 339911	NM_001352514.2(HLCS):c.*3226del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339912	NM_001352514.2(HLCS):c.*3209C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899062	NM_001352514.2(HLCS):c.*3175A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899064	NM_001352514.2(HLCS):c.*3162T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899063	NM_001352514.2(HLCS):c.*3162T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339913	NM_001352514.2(HLCS):c.3159_3162del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339914	NM_001352514.2(HLCS):c.*3161G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899065	NM_001352514.2(HLCS):c.*3156A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339915	NM_001352514.2(HLCS):c.3141_3142dup	HLCS	Duplication (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 899066	NM_001352514.2(HLCS):c.*3050A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894933	NM_001352514.2(HLCS):c.*3043A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339916	NM_001352514.2(HLCS):c.*2952CT[1]	HLCS	Microsatellite (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339917	NM_001352514.2(HLCS):c.*2945C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894934	NM_001352514.2(HLCS):c.*2921A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894935	NM_001352514.2(HLCS):c.*2847G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339918	NM_001352514.2(HLCS):c.*2814C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894936	NM_001352514.2(HLCS):c.*2771C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894937	NM_001352514.2(HLCS):c.*2700C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894938	NM_001352514.2(HLCS):c.*2647T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339919	NM_001352514.2(HLCS):c.*2624G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 339920	NM_001352514.2(HLCS):c.*2622G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 896375	NM_001352514.2(HLCS):c.*2555T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339921	NM_001352514.2(HLCS):c.*2545C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339922	NM_001352514.2(HLCS):c.*2541C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896376	NM_001352514.2(HLCS):c.*2444C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339923	NM_001352514.2(HLCS):c.*2434G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896377	NM_001352514.2(HLCS):c.*2416C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339924	NM_001352514.2(HLCS):c.*2285G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339925	NM_001352514.2(HLCS):c.*2267G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339926	NM_001352514.2(HLCS):c.*2243C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339927	NM_001352514.2(HLCS):c.*2163A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898005	NM_001352514.2(HLCS):c.*2069T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339928	NM_001352514.2(HLCS):c.*2023G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339929	NM_001352514.2(HLCS):c.*1997G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898006	NM_001352514.2(HLCS):c.*1953A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339930	NM_001352514.2(HLCS):c.*1856T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339931	NM_001352514.2(HLCS):c.*1852G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339932	NM_001352514.2(HLCS):c.*1827C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899124	NM_001352514.2(HLCS):c.*1766G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339933	NM_001352514.2(HLCS):c.1761_1762del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339934	NM_001352514.2(HLCS):c.*1756C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339935	NM_001352514.2(HLCS):c.*1744G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 339936	NM_001352514.2(HLCS):c.*1725A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339937	NM_001352514.2(HLCS):c.*1614dup	HLCS	Duplication (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339938	NM_001352514.2(HLCS):c.*1589CAAA[2]	HLCS	Microsatellite (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339939	NM_001352514.2(HLCS):c.*1594A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339940	NM_001352514.2(HLCS):c.*1581T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339941	NM_001352514.2(HLCS):c.*1484A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339942	NM_001352514.2(HLCS):c.*1324T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339943	NM_001352514.2(HLCS):c.*1273T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339944	NM_001352514.2(HLCS):c.*1206C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339945	NM_001352514.2(HLCS):c.*1097G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894991	NM_001352514.2(HLCS):c.*1094T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339946	NM_001352514.2(HLCS):c.*1089G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894992	NM_001352514.2(HLCS):c.*1085G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339947	NM_001352514.2(HLCS):c.*1084C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896437	NM_001352514.2(HLCS):c.*1071G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339948	NM_001352514.2(HLCS):c.*985C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339949	NM_001352514.2(HLCS):c.*779A>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339950	NM_001352514.2(HLCS):c.*590A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance

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