"Ambry Genetics"[submitter] AND "SIK1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3162243	NM_173354.5(SIK1):c.2257G>T (p.Ala753Ser)	SIK1 (A753S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 588900	NM_173354.5(SIK1):c.2217C>T (p.Thr739=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589062	NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser)	SIK1 (G737S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 589366	NM_173354.5(SIK1):c.2166C>T (p.Ala722=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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 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 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 589231	NM_173354.5(SIK1):c.2127G>A (p.Leu709=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 589934	NM_173354.5(SIK1):c.2112G>A (p.Ser704=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 588437	NM_173354.5(SIK1):c.2104C>A (p.Leu702Ile)	SIK1 (L702I)	Single nucleotide variant (missense 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 376881	NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)	SIK1 (P696L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 588580	NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser)	SIK1 (P696S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 476097	NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp)	SIK1 (G691D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 590148	NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr)	SIK1 (A687T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 476095	NM_173354.5(SIK1):c.2049G>A (p.Pro683=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign/Likely benign
Select item 589993	NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu)	SIK1 (P683L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 833546	NM_173354.5(SIK1):c.2034G>T (p.Gln678His)	SIK1 (Q678H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589068	NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro)	SIK1 (Q678P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 934437	NM_173354.5(SIK1):c.2012C>T (p.Pro671Leu)	SIK1 (P671L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 588103	NM_173354.5(SIK1):c.2011C>T (p.Pro671Ser)	SIK1 (P671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589808	NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr)	SIK1 (A669T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 845487	NM_173354.5(SIK1):c.1989A>C (p.Leu663Phe)	SIK1 (L663F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 476094	NM_173354.5(SIK1):c.1926C>T (p.Ala642=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1030318	NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu)	SIK1 (P635L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1017671	NM_173354.5(SIK1):c.1904C>G (p.Pro635Arg)	SIK1 (P635R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1719376	NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)	SIK1 (S634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554014	NM_173354.5(SIK1):c.1871G>T (p.Gly624Val)	SIK1 (G624V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 947439	NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln)	SIK1 (R619Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1781393	NM_173354.5(SIK1):c.1855C>T (p.Arg619Trp)	SIK1 (R619W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 586586	NM_173354.5(SIK1):c.1848C>T (p.Pro616=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +3 more	GBenign
Select item 586585	NM_173354.5(SIK1):c.1844C>T (p.Ala615Val)	SIK1 (A615V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +3 more	GBenign
Select item 577708	NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr)	SIK1 (A615T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521524	NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys)	SIK1 (R610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1780759	NM_173354.5(SIK1):c.1820G>A (p.Gly607Glu)	SIK1 (G607E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476093	NM_173354.5(SIK1):c.1782G>A (p.Thr594=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 972301	NM_173354.5(SIK1):c.1781C>T (p.Thr594Met)	SIK1 (T594M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051461	NM_173354.5(SIK1):c.1777A>T (p.Thr593Ser)	SIK1 (T593S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 833584	NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile)	SIK1 (T580I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1345683	NM_173354.5(SIK1):c.1670G>A (p.Gly557Asp)	SIK1 (G557D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 1044080	NM_173354.5(SIK1):c.1634C>T (p.Ser545Leu)	SIK1 (S545L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 948616	NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu)	SIK1 (S540L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 476091	NM_173354.5(SIK1):c.1605G>A (p.Pro535=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign
Select item 476089	NM_173354.5(SIK1):c.1554G>T (p.Ala518=)	SIK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1021126	NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly)	SIK1 (A518G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 542707	NM_173354.5(SIK1):c.1553C>T (p.Ala518Val)	SIK1 (A518V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 838251	NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro)	SIK1 (A518P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GLikely benign
Select item 2248547	NM_173354.5(SIK1):c.1547G>A (p.Ser516Asn)	SIK1 (S516N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611337	NM_173354.5(SIK1):c.1525C>A (p.Leu509Met)	SIK1 (L509M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1091040	NM_173354.5(SIK1):c.1518C>T (p.Asp506=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 955324	NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu)	SIK1 (G502E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 476088	NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser)	SIK1 (A497S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign/Likely benign
Select item 1170406	NM_173354.5(SIK1):c.1488G>A (p.Thr496=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1773508	NM_173354.5(SIK1):c.1479del (p.Ser494fs)	SIK1 (S494fs)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
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 476086	NM_173354.5(SIK1):c.1471G>C (p.Val491Leu)	SIK1 (V491L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign/Likely benign
Select item 476085	NM_173354.5(SIK1):c.1470C>T (p.Val490=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign/Likely benign
Select item 587897	NM_173354.5(SIK1):c.1463-3C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GBenign
Select item 1137642	NM_173354.5(SIK1):c.1463-5C>A	SIK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 476083	NM_173354.5(SIK1):c.1463-5C>T	SIK1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 448380	NM_173354.5(SIK1):c.1455C>T (p.Thr485=)	SIK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2525731	NM_173354.5(SIK1):c.1450C>T (p.Leu484Phe)	SIK1 (L484F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056531	NM_173354.5(SIK1):c.1447C>T (p.Pro483Ser)	SIK1 (P483S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1772355	NM_173354.5(SIK1):c.1425C>T (p.Ala475=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 476081	NM_173354.5(SIK1):c.1404G>A (p.Thr468=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 589867	NM_173354.5(SIK1):c.1403C>T (p.Thr468Met)	SIK1 (T468M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 772410	NM_173354.5(SIK1):c.1395C>T (p.Pro465=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 571730	NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala)	SIK1 (E457A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 793430	NM_173354.5(SIK1):c.1356G>A (p.Pro452=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 648231	NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu)	SIK1 (P452L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 833627	NM_173354.5(SIK1):c.1300G>A (p.Val434Met)	SIK1 (V434M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588258	NM_173354.5(SIK1):c.1300G>C (p.Val434Leu)	SIK1 (V434L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GBenign/Likely benign
Select item 1160554	NM_173354.5(SIK1):c.1299C>T (p.Pro433=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 848500	NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp)	SIK1 (R432W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 643499	NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln)	SIK1 (R430Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 476080	NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp)	SIK1 (R430W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 476079	NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln)	SIK1 (P420Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +1 more	GUncertain significance
Select item 707210	NM_173354.5(SIK1):c.1246-5C>T	SIK1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 1393532	NM_173354.5(SIK1):c.1235C>T (p.Ser412Leu)	SIK1 (S412L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 30 +2 more	GConflicting classifications of pathogenicity
Select item 377139	NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)	SIK1 (M405I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1749505	NM_173354.5(SIK1):c.1209C>T (p.Ala403=)	SIK1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 30 +1 more	GLikely benign
Select item 657491	NM_173354.5(SIK1):c.1198G>T (p.Val400Phe)	SIK1 (V400F)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 589822	NM_173354.5(SIK1):c.1179G>A (p.Pro393=)	SIK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 837645	NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu)	SIK1 (P391L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign

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