ClinVar for Gene (Select 150094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377537	NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)	SIK1 (Q553P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3377532	NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)	SIK1 (F779Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3339257	NM_173354.5(SIK1):c.1580A>G (p.Gln527Arg)	SIK1 (Q527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318520	NM_173354.5(SIK1):c.1120-5C>A	SIK1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3318519	NM_173354.5(SIK1):c.2093C>G (p.Pro698Arg)	SIK1 (P698R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318518	NM_173354.5(SIK1):c.811C>G (p.Gln271Glu)	SIK1 (Q271E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256853	NM_173354.5(SIK1):c.1119+85T>C	SIK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256842	NM_173354.5(SIK1):c.1977-85T>A	SIK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3252293	NM_173354.5(SIK1):c.512G>A (p.Gly171Glu)	SIK1 (G171E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251673	NM_173354.5(SIK1):c.2259C>A (p.Ala753=)	SIK1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248163	NC_000021.8:g.(?_44836622)_(44846058_?)dup	SIK1	Duplication	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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 3162243	NM_173354.5(SIK1):c.2257G>T (p.Ala753Ser)	SIK1 (A753S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162242	NM_173354.5(SIK1):c.1478C>T (p.Pro493Leu)	SIK1 (P493L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068133	NM_173354.5(SIK1):c.1582G>A (p.Gly528Arg)	SIK1 (G528R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3065091	NM_173354.5(SIK1):c.1373del (p.Gln458fs)	SIK1 (Q458fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 30	GLikely pathogenic
Select item 3064411	NM_173354.5(SIK1):c.184C>T (p.Arg62Ter)	SIK1 (R62*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3063936	NM_173354.5(SIK1):c.1345A>T (p.Arg449Trp)	SIK1 (R449W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063898	NM_173354.5(SIK1):c.25G>A (p.Ala9Thr)	SIK1 (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063667	NM_173354.5(SIK1):c.625-16C>T	SIK1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	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 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 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 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	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 3027180	NM_173354.5(SIK1):c.572C>T (p.Ala191Val)	SIK1 (A191V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022098	NM_173354.5(SIK1):c.338-25_338-20del	SIK1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3021045	NM_173354.5(SIK1):c.1478C>G (p.Pro493Arg)	SIK1 (P493R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3019181	NM_173354.5(SIK1):c.252A>G (p.Pro84=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3018234	NM_173354.5(SIK1):c.1302G>T (p.Val434=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3012421	NM_173354.5(SIK1):c.1089G>A (p.Arg363=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3011926	NM_173354.5(SIK1):c.1362A>G (p.Leu454=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3009965	NM_173354.5(SIK1):c.1679G>A (p.Gly560Glu)	SIK1 (G560E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3007713	NM_173354.5(SIK1):c.1463-11T>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3001847	NM_173354.5(SIK1):c.1351G>T (p.Gly451Trp)	SIK1 (G451W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 3001646	NM_173354.5(SIK1):c.1977-13T>C	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 3000770	NM_173354.5(SIK1):c.392G>C (p.Trp131Ser)	SIK1 (W131S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2996140	NM_173354.5(SIK1):c.2195T>G (p.Leu732Arg)	SIK1 (L732R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2985363	NM_173354.5(SIK1):c.1967A>G (p.Glu656Gly)	SIK1 (E656G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2985023	NM_173354.5(SIK1):c.1193A>G (p.Gln398Arg)	SIK1 (Q398R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2981673	NM_173354.5(SIK1):c.1909C>T (p.Leu637=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2976937	NM_173354.5(SIK1):c.1933C>T (p.Arg645Trp)	SIK1 (R645W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2976559	NM_173354.5(SIK1):c.973-14C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2973067	NM_173354.5(SIK1):c.1175A>G (p.Gln392Arg)	SIK1 (Q392R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2970785	NM_173354.5(SIK1):c.534G>A (p.Glu178=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2968122	NM_173354.5(SIK1):c.156+11dup	SIK1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 2965959	NM_173354.5(SIK1):c.1666G>C (p.Gly556Arg)	SIK1 (G556R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2964136	NM_173354.5(SIK1):c.1449A>G (p.Pro483=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2961600	NM_173354.5(SIK1):c.2016C>G (p.Gly672=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2958457	NM_173354.5(SIK1):c.857G>C (p.Gly286Ala)	SIK1 (G286A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2920232	NM_173354.5(SIK1):c.973-13C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2917492	NM_173354.5(SIK1):c.648C>T (p.Val216=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2917304	NM_173354.5(SIK1):c.1245+20G>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2915727	NM_173354.5(SIK1):c.1144G>C (p.Asp382His)	SIK1 (D382H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2913766	NM_173354.5(SIK1):c.2083G>C (p.Ala695Pro)	SIK1 (A695P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2912044	NM_173354.5(SIK1):c.157-20T>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2909526	NM_173354.5(SIK1):c.645C>T (p.Tyr215=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2907442	NM_173354.5(SIK1):c.973-5C>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2904588	NM_173354.5(SIK1):c.2255T>C (p.Leu752Pro)	SIK1 (L752P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2901745	NM_173354.5(SIK1):c.1057T>C (p.Cys353Arg)	SIK1 (C353R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2901422	NM_173354.5(SIK1):c.1976+12C>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2900734	NM_173354.5(SIK1):c.1869C>A (p.Gly623=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2898530	NM_173354.5(SIK1):c.13T>A (p.Ser5Thr)	SIK1 (S5T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2898107	NM_173354.5(SIK1):c.1066C>T (p.Pro356Ser)	SIK1 (P356S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2888233	NM_173354.5(SIK1):c.767G>A (p.Arg256His)	SIK1 (R256H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2887458	NM_173354.5(SIK1):c.42G>C (p.Gln14His)	SIK1 (Q14H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2882177	NM_173354.5(SIK1):c.1697_1698delinsCT (p.Val566Ala)	SIK1 (V566A)	Indel (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2881953	NM_173354.5(SIK1):c.57G>A (p.Gln19=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2881499	NM_173354.5(SIK1):c.972+14C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2878140	NM_173354.5(SIK1):c.157-5del	SIK1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2875480	NM_173354.5(SIK1):c.1119+6G>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2871148	NM_173354.5(SIK1):c.1045C>T (p.Arg349Trp)	SIK1 (R349W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2870953	NM_173354.5(SIK1):c.748+16T>C	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2867657	NM_173354.5(SIK1):c.357G>A (p.Gly119=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2865014	NM_173354.5(SIK1):c.499+13C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2863821	NM_173354.5(SIK1):c.237G>A (p.Lys79=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2863816	NM_173354.5(SIK1):c.624+3A>G	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2860867	NM_173354.5(SIK1):c.2196G>A (p.Leu732=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2855040	NM_173354.5(SIK1):c.1319T>A (p.Leu440Gln)	SIK1 (L440Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2854714	NM_173354.5(SIK1):c.1976+13C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2854487	NM_173354.5(SIK1):c.1298C>A (p.Pro433His)	SIK1 (P433H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2852397	NM_173354.5(SIK1):c.625-6C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2850311	NM_173354.5(SIK1):c.692C>A (p.Thr231Lys)	SIK1 (T231K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2846318	NM_173354.5(SIK1):c.657C>T (p.Cys219=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2845891	NM_173354.5(SIK1):c.274-6C>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2844596	NM_173354.5(SIK1):c.1887C>A (p.His629Gln)	SIK1 (H629Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2833971	NM_173354.5(SIK1):c.70G>C (p.Val24Leu)	SIK1 (V24L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2831332	NM_173354.5(SIK1):c.1801G>A (p.Gly601Arg)	SIK1 (G601R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2829970	NM_173354.5(SIK1):c.1761G>A (p.Arg587=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2827881	NM_173354.5(SIK1):c.2169_2171del (p.Ala725del)	SIK1 (A725del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2824472	NM_173354.5(SIK1):c.2173G>A (p.Ala725Thr)	SIK1 (A725T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2822588	NM_173354.5(SIK1):c.1119+3G>A	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2821097	NM_173354.5(SIK1):c.2220C>T (p.Ala740=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2819491	NM_173354.5(SIK1):c.2238A>G (p.Pro746=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2818772	NM_173354.5(SIK1):c.2189C>T (p.Thr730Ile)	SIK1 (T730I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance

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