SIK1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652716	NC_000021.9:g.43402567del	SIK1	Deletion	not provided	GLikely benign
Select item 1879543	NC_000021.9:g.43403420G>A	SIK1	Single nucleotide variant	not provided	GLikely benign
Select item 1711544	NC_000021.9:g.43403465G>T	SIK1	Single nucleotide variant	not provided	GBenign
Select item 1879544	NC_000021.9:g.43403629G>A	SIK1	Single nucleotide variant	not provided	GBenign
Select item 2652717	NC_000021.9:g.43403668C>T	SIK1	Single nucleotide variant	not provided	GBenign
Select item 2652718	NC_000021.9:g.43403691A>C	SIK1	Single nucleotide variant	not provided	GLikely benign
Select item 476074	NC_000021.8:g.(?_44836602)_(44837674_?)dup	SIK1	Duplication	Developmental and epileptic encephalopathy, 30	GBenign
Select item 1603261	NM_173354.5(SIK1):c.2340C>T (p.Val780=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1105318	NM_173354.5(SIK1):c.2334G>A (p.Thr778=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2604795	NM_173354.5(SIK1):c.2333C>T (p.Thr778Met)	SIK1 (T778M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391624	NM_173354.5(SIK1):c.2321G>C (p.Cys774Ser)	SIK1 (C774S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1436393	NM_173354.5(SIK1):c.2320T>C (p.Cys774Arg)	SIK1 (C774R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 809293	NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly)	SIK1 (C774G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1539426	NM_173354.5(SIK1):c.2311C>T (p.Leu771=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 940232	NM_173354.5(SIK1):c.2305G>A (p.Glu769Lys)	SIK1 (E769K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2006279	NM_173354.5(SIK1):c.2302A>G (p.Met768Val)	SIK1 (M768V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 568626	NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr)	SIK1 (D765Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2116534	NM_173354.5(SIK1):c.2279G>A (p.Gly760Glu)	SIK1 (G760E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 856098	NM_173354.5(SIK1):c.2272C>T (p.Pro758Ser)	SIK1 (P758S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2778089	NM_173354.5(SIK1):c.2263G>C (p.Gly755Arg)	SIK1 (G755R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	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 2742875	NM_173354.5(SIK1):c.2258C>G (p.Ala753Gly)	SIK1 (A753G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1500908	NM_173354.5(SIK1):c.2258C>T (p.Ala753Val)	SIK1 (A753V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
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 650557	NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser)	SIK1 (A753S)	Indel (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
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 2110626	NM_173354.5(SIK1):c.2250C>T (p.Ala750=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1353547	NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu)	SIK1 (R748L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 476104	NM_173354.5(SIK1):c.2243G>A (p.Arg748His)	SIK1 (R748H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 476103	NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys)	SIK1 (R748C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
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 2809841	NM_173354.5(SIK1):c.2230G>A (p.Val744Met)	SIK1 (V744M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2003130	NM_173354.5(SIK1):c.2230G>C (p.Val744Leu)	SIK1 (V744L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 737914	NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr)	SIK1 (A743T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 743930	NM_173354.5(SIK1):c.2226C>G (p.Pro742=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 715073	NM_173354.5(SIK1):c.2226C>T (p.Pro742=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 590022	NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu)	SIK1 (P742L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 833576	NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg)	SIK1 (L741R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
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 851383	NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr)	SIK1 (A740T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign
Select item 588900	NM_173354.5(SIK1):c.2217C>T (p.Thr739=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +2 more	GLikely benign
Select item 1149752	NM_173354.5(SIK1):c.2211C>T (p.Gly737=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 589062	NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser)	SIK1 (G737S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 1615615	NM_173354.5(SIK1):c.2208C>G (p.Thr736=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 542720	NM_173354.5(SIK1):c.2208C>T (p.Thr736=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 476102	NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp)	SIK1 (G735D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 542715	NM_173354.5(SIK1):c.2202T>C (p.Ile734=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1063659	NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr)	SIK1 (I734T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 1718065	NM_173354.5(SIK1):c.2200A>C (p.Ile734Leu)	SIK1 (I734L)	Single nucleotide variant (missense 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 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 1100795	NM_173354.5(SIK1):c.2193C>T (p.His731=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 812541	NM_173354.5(SIK1):c.2191C>T (p.His731Tyr)	SIK1 (H731Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 450218	NM_173354.5(SIK1):c.2191C>A (p.His731Asn)	SIK1 (H731N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 1062859	NM_173354.5(SIK1):c.2188A>T (p.Thr730Ser)	SIK1 (T730S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 589153	NM_173354.5(SIK1):c.2182C>T (p.Leu728=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1007082	NM_173354.5(SIK1):c.2179C>T (p.Leu727Phe)	SIK1 (L727F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 730753	NM_173354.5(SIK1):c.2175G>A (p.Ala725=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 476101	NM_173354.5(SIK1):c.2174C>T (p.Ala725Val)	SIK1 (A725V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign
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 954134	NM_173354.5(SIK1):c.2172G>A (p.Ala724=)	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 589366	NM_173354.5(SIK1):c.2166C>T (p.Ala722=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1003520	NM_173354.5(SIK1):c.2165C>A (p.Ala722Asp)	SIK1 (A722D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1392523	NM_173354.5(SIK1):c.2161G>A (p.Val721Met)	SIK1 (V721M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 847877	NM_173354.5(SIK1):c.2161G>T (p.Val721Leu)	SIK1 (V721L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2771577	NM_173354.5(SIK1):c.2160G>A (p.Pro720=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 542725	NM_173354.5(SIK1):c.2160G>T (p.Pro720=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 779814	NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)	SIK1 (P720L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 588362	NM_173354.5(SIK1):c.2154G>A (p.Ala718=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 947060	NM_173354.5(SIK1):c.2153C>T (p.Ala718Val)	SIK1 (A718V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2199574	NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)	SIK1 (A718T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1484186	NM_173354.5(SIK1):c.2151C>T (p.Gly717=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1112776	NM_173354.5(SIK1):c.2151C>G (p.Gly717=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1057140	NM_173354.5(SIK1):c.2149G>A (p.Gly717Ser)	SIK1 (G717S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 2795385	NM_173354.5(SIK1):c.2148C>G (p.Thr716=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 589999	NM_173354.5(SIK1):c.2148C>T (p.Thr716=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 476100	NM_173354.5(SIK1):c.2142G>A (p.Leu714=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign/Likely benign
Select item 1077711	NM_173354.5(SIK1):c.2139C>T (p.Leu713=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1405415	NM_173354.5(SIK1):c.2137C>G (p.Leu713Val)	SIK1 (L713V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1930807	NM_173354.5(SIK1):c.2135C>A (p.Pro712Gln)	SIK1 (P712Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1657280	NM_173354.5(SIK1):c.2133C>G (p.Pro711=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 648382	NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg)	SIK1 (P711R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1546765	NM_173354.5(SIK1):c.2130G>A (p.Pro710=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2717788	NM_173354.5(SIK1):c.2129C>T (p.Pro710Leu)	SIK1 (P710L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 589231	NM_173354.5(SIK1):c.2127G>A (p.Leu709=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1809669	NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)	SIK1 (L709P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2040291	NM_173354.5(SIK1):c.2123T>C (p.Leu708Pro)	SIK1 (L708P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 476099	NM_173354.5(SIK1):c.2121G>A (p.Pro707=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 949195	NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu)	SIK1 (P707L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1140365	NM_173354.5(SIK1):c.2118C>T (p.Leu706=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 2652719	NM_173354.5(SIK1):c.2117T>A (p.Leu706His)	SIK1 (L706H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 2151839	NM_173354.5(SIK1):c.2115G>A (p.Gly705=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 1063221	NM_173354.5(SIK1):c.2114G>A (p.Gly705Glu)	SIK1 (G705E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1533102	NM_173354.5(SIK1):c.2112G>C (p.Ser704=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 589934	NM_173354.5(SIK1):c.2112G>A (p.Ser704=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +2 more	GConflicting classifications of pathogenicity
Select item 1023363	NM_173354.5(SIK1):c.2111C>T (p.Ser704Leu)	SIK1 (S704L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GUncertain significance
Select item 1146936	NM_173354.5(SIK1):c.2109G>A (p.Thr703=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30	GLikely benign
Select item 572576	NM_173354.5(SIK1):c.2108C>T (p.Thr703Met)	SIK1 (T703M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30	GBenign

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