ClinVar for Gene (Select 3763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376147	NM_002240.5(KCNJ6):c.329T>A (p.Ile110Asn)	KCNJ6, KCNJ6-AS1 (I110N)	Single nucleotide variant (non-coding transcript variant +1 more)	Keppen-Lubinsky syndrome	GUncertain significance
Select item 3372759	NM_002240.5(KCNJ6):c.227_234dup (p.Asp79delinsThrTer)	KCNJ6, KCNJ6-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3368134	NM_002240.5(KCNJ6):c.1105G>A (p.Glu369Lys)	KCNJ6-AS1, KCNJ6 (E369K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367306	NM_002240.5(KCNJ6):c.181G>T (p.Gly61Ter)	KCNJ6, KCNJ6-AS1 (G61*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3365439	NM_002240.5(KCNJ6):c.455C>T (p.Thr152Ile)	KCNJ6, KCNJ6-AS1 (T152I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361670	NM_002240.5(KCNJ6):c.1189A>C (p.Thr397Pro)	KCNJ6 (T397P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340942	NM_002240.5(KCNJ6):c.302_303del (p.Thr101fs)	KCNJ6, KCNJ6-AS1 (T101fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3287655	NM_002240.5(KCNJ6):c.103C>A (p.Gln35Lys)	KCNJ6, KCNJ6-AS1 (Q35K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 3252214	NM_002240.5(KCNJ6):c.1129_1130delinsAA (p.Ala377Lys)	KCNJ6, KCNJ6-AS1 (A377K)	Indel (missense variant)	not provided	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 3233660	NM_002240.5(KCNJ6):c.1122C>T (p.Ala374=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3113343	NM_002240.5(KCNJ6):c.158T>C (p.Ile53Thr)	KCNJ6, KCNJ6-AS1 (I53T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	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 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	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 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 3032593	NM_002240.5(KCNJ6):c.327G>A (p.Met109Ile)	KCNJ6, KCNJ6-AS1 (M109I)	Single nucleotide variant (non-coding transcript variant +1 more)	KCNJ6-related disorder	GUncertain significance
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 2976221	NM_002240.5(KCNJ6):c.947-7T>C	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	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 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 2964624	NM_002240.5(KCNJ6):c.151A>C (p.Arg51=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 2887411	NM_002240.5(KCNJ6):c.280T>C (p.Leu94=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 2742030	NM_002240.5(KCNJ6):c.342C>T (p.Ile114=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2713272	NM_002240.5(KCNJ6):c.1173A>G (p.Gln391=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2663540	NM_002240.5(KCNJ6):c.2T>C (p.Met1Thr)	KCNJ6 (M1T)	Single nucleotide variant (missense 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
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 2652662	NM_002240.5(KCNJ6):c.128A>G (p.His43Arg)	KCNJ6-AS1, KCNJ6 (H43R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2652661	NM_002240.5(KCNJ6):c.398T>A (p.Val133Asp)	KCNJ6, KCNJ6-AS1 (V133D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 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 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 2478204	NM_002240.5(KCNJ6):c.52G>A (p.Asp18Asn)	KCNJ6, KCNJ6-AS1 (D18N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431874	NM_002240.5(KCNJ6):c.22A>G (p.Met8Val)	KCNJ6 (M8V)	Single nucleotide variant (missense variant)	Keppen-Lubinsky syndrome	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 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 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 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 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 2168488	NM_002240.5(KCNJ6):c.73G>T (p.Val25Leu)	KCNJ6, KCNJ6-AS1 (V25L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2162637	NM_002240.5(KCNJ6):c.43G>A (p.Asp15Asn)	KCNJ6, KCNJ6-AS1 (D15N)	Single nucleotide variant (missense variant)	KCNJ6-related disorder +1 more	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 2079202	NM_002240.5(KCNJ6):c.25+8G>A	KCNJ6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053056	NM_002240.5(KCNJ6):c.61G>A (p.Val21Ile)	KCNJ6, KCNJ6-AS1 (V21I)	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 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 1950881	NM_002240.5(KCNJ6):c.42C>T (p.Gly14=)	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 1922966	NM_002240.5(KCNJ6):c.30C>T (p.Asn10=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1903775	NM_002240.5(KCNJ6):c.1041C>T (p.Tyr347=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801466	NM_002240.5(KCNJ6):c.947-6762_947-6761insGTTTGTTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGCCGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCGGGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTACAGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCACCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCTAACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC	KCNJ6, KCNJ6-AS1	Insertion (intron variant)	Schizophrenia	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 1676465	NM_002240.5(KCNJ6):c.472C>T (p.Arg158Trp)	KCNJ6 (R158W)	Single nucleotide variant	not provided	GUncertain significance
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 1656924	NM_002240.5(KCNJ6):c.946+17C>T	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1641162	NM_002240.5(KCNJ6):c.26-19_26-17del	KCNJ6, KCNJ6-AS1	Deletion (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 1549688	NM_002240.5(KCNJ6):c.42C>A (p.Gly14=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534067	NM_002240.5(KCNJ6):c.168C>T (p.Tyr56=)	KCNJ6, KCNJ6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	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 1522657	NM_002240.5(KCNJ6):c.127C>G (p.His43Asp)	KCNJ6, KCNJ6-AS1 (H43D)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CBR3, CHAF1B +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	CHAF1B, IFNGR2 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +3 more	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 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 1349310	NM_002240.5(KCNJ6):c.72_74dup (p.Val25dup)	KCNJ6, KCNJ6-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1342550	NM_002240.5(KCNJ6):c.25+11980A>G	KCNJ6	Single nucleotide variant (intron variant)	Keppen-Lubinsky syndrome	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 1329669	NM_002240.5(KCNJ6):c.701del (p.Glu234fs)	KCNJ6, KCNJ6-AS1 (E234fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1321668	NM_002240.5(KCNJ6):c.26-65G>A	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1309037	NM_002240.5(KCNJ6):c.974dup (p.Tyr325Ter)	KCNJ6, KCNJ6-AS1 (Y325*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1308084	NM_002240.5(KCNJ6):c.139G>A (p.Asp47Asn)	KCNJ6, KCNJ6-AS1 (D47N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283542	NM_002240.5(KCNJ6):c.947-79C>T	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263348	NM_002240.5(KCNJ6):c.26-41C>G	KCNJ6, KCNJ6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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