6267[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 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
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 1245230	NM_002240.5(KCNJ6):c.*34C>G	KCNJ6, KCNJ6-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2531632	NM_002240.5(KCNJ6):c.1243G>A (p.Ala415Thr)	KCNJ6, KCNJ6-AS1 (A415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365568	NM_002240.5(KCNJ6):c.1213G>A (p.Glu405Lys)	KCNJ6-AS1, KCNJ6 (E405K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217791	NM_002240.5(KCNJ6):c.1177G>T (p.Ala393Ser)	KCNJ6, KCNJ6-AS1 (A393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463316	NM_002240.5(KCNJ6):c.1174C>T (p.His392Tyr)	KCNJ6, KCNJ6-AS1 (H392Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713272	NM_002240.5(KCNJ6):c.1173A>G (p.Gln391=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603784	NM_002240.5(KCNJ6):c.1153G>T (p.Val385Leu)	KCNJ6, KCNJ6-AS1 (V385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512840	NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro)	KCNJ6, KCNJ6-AS1 (L381P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2229119	NM_002240.5(KCNJ6):c.1132G>A (p.Glu378Lys)	KCNJ6, KCNJ6-AS1 (E378K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252214	NM_002240.5(KCNJ6):c.1129_1130delinsAA (p.Ala377Lys)	KCNJ6, KCNJ6-AS1 (A377K)	Indel (missense variant)	not provided	GUncertain significance
Select item 1369639	NM_002240.5(KCNJ6):c.1128G>T (p.Arg376Ser)	KCNJ6, KCNJ6-AS1 (R376S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846308	NM_002240.5(KCNJ6):c.1125C>G (p.Ser375Arg)	KCNJ6, KCNJ6-AS1 (S375R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233660	NM_002240.5(KCNJ6):c.1122C>T (p.Ala374=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2966231	NM_002240.5(KCNJ6):c.1113C>T (p.Ala371=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903775	NM_002240.5(KCNJ6):c.1041C>T (p.Tyr347=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170806	NM_002240.5(KCNJ6):c.1032C>T (p.Asp344=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2729266	NM_002240.5(KCNJ6):c.1021A>T (p.Thr341Ser)	KCNJ6, KCNJ6-AS1 (T341S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035882	NM_002240.5(KCNJ6):c.1011A>C (p.Thr337=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309037	NM_002240.5(KCNJ6):c.974dup (p.Tyr325Ter)	KCNJ6, KCNJ6-AS1 (Y325*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2744158	NM_002240.5(KCNJ6):c.970T>C (p.Ser324Pro)	KCNJ6, KCNJ6-AS1 (S324P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319207	NM_002240.5(KCNJ6):c.964C>T (p.Arg322Ter)	KCNJ6, KCNJ6-AS1 (R322*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2976221	NM_002240.5(KCNJ6):c.947-7T>C	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563298	NM_002240.5(KCNJ6):c.947-16A>T	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283542	NM_002240.5(KCNJ6):c.947-79C>T	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801466	NM_002240.5(KCNJ6):c.947-6762_947-6761insGTTTGTTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGCCGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCGGGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTACAGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCACCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCTAACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC	KCNJ6, KCNJ6-AS1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 1656924	NM_002240.5(KCNJ6):c.946+17C>T	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2026714	NM_002240.5(KCNJ6):c.946+8G>A	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013565	NM_002240.5(KCNJ6):c.936G>C (p.Val312=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965123	NM_002240.5(KCNJ6):c.828G>A (p.Pro276=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 762400	NM_002240.5(KCNJ6):c.825A>G (p.Ser275=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960701	NM_002240.5(KCNJ6):c.809G>A (p.Arg270His)	KCNJ6, KCNJ6-AS1 (R270H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2155361	NM_002240.5(KCNJ6):c.798G>A (p.Thr266=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1424269	NM_002240.5(KCNJ6):c.797C>T (p.Thr266Met)	KCNJ6, KCNJ6-AS1 (T266M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442847	NM_002240.5(KCNJ6):c.773C>T (p.Thr258Met)	KCNJ6, KCNJ6-AS1 (T258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747857	NM_002240.5(KCNJ6):c.750G>A (p.Gly250=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656479	NM_002240.5(KCNJ6):c.744G>A (p.Ser248=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255815	NM_002240.5(KCNJ6):c.738G>C (p.Gln246His)	KCNJ6, KCNJ6-AS1 (Q246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1329669	NM_002240.5(KCNJ6):c.701del (p.Glu234fs)	KCNJ6, KCNJ6-AS1 (E234fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3043374	NM_002240.5(KCNJ6):c.690C>T (p.Ser230=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNJ6-related disorder	GLikely benign
Select item 2746583	NM_002240.5(KCNJ6):c.669G>T (p.Arg223=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3068985	NM_002240.5(KCNJ6):c.667C>T (p.Arg223Trp)	KCNJ6, KCNJ6-AS1 (R223W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2662053	NM_002240.5(KCNJ6):c.584A>C (p.Gln195Pro)	KCNJ6, KCNJ6-AS1 (Q195P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1913313	NM_002240.5(KCNJ6):c.561A>T (p.Gly187=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1949198	NM_002240.5(KCNJ6):c.522A>G (p.Gln174=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 431712	NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg)	KCNJ6, KCNJ6-AS1 (L171R)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	GLikely pathogenic
Select item 1165658	NM_002240.5(KCNJ6):c.495A>G (p.Pro165=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2580426	NM_002240.5(KCNJ6):c.491G>T (p.Cys164Phe)	KCNJ6, KCNJ6-AS1 (C164F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 189255	NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser)	KCNJ6, KCNJ6-AS1 (G154S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 189254	NM_002240.5(KCNJ6):c.452CCA[1] (p.Thr152del)	KCNJ6, KCNJ6-AS1 (T152del)	Microsatellite (inframe_deletion)	Keppen-Lubinsky syndrome	GPathogenic
Select item 1673038	NM_002240.5(KCNJ6):c.414G>T (p.Gly138=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014984	NM_002240.5(KCNJ6):c.411C>T (p.Asn137=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 740126	NM_002240.5(KCNJ6):c.402C>T (p.Thr134=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652661	NM_002240.5(KCNJ6):c.398T>A (p.Val133Asp)	KCNJ6, KCNJ6-AS1 (V133D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3287654	NM_002240.5(KCNJ6):c.386G>C (p.Trp129Ser)	KCNJ6, KCNJ6-AS1 (W129S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177232	NM_002240.5(KCNJ6):c.372A>G (p.Ile124Met)	KCNJ6, KCNJ6-AS1 (I124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255852	NM_002240.5(KCNJ6):c.356G>T (p.Gly119Val)	KCNJ6, KCNJ6-AS1 (G119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 489221	NM_002240.5(KCNJ6):c.355G>T (p.Gly119Ter)	KCNJ6, KCNJ6-AS1 (G119*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2504159	NM_002240.5(KCNJ6):c.353G>T (p.Arg118Leu)	KCNJ6, KCNJ6-AS1 (R118L)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 1472725	NM_002240.5(KCNJ6):c.353G>A (p.Arg118Gln)	KCNJ6, KCNJ6-AS1 (R118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253047	NM_002240.5(KCNJ6):c.347A>T (p.Tyr116Phe)	KCNJ6-AS1, KCNJ6 (Y116F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2663020	NM_002240.5(KCNJ6):c.347A>G (p.Tyr116Cys)	KCNJ6, KCNJ6-AS1 (Y116C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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