SLK[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 3320567	NM_014720.4(SLK):c.40A>G (p.Ser14Gly)	SLK (S14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588761	NM_014720.4(SLK):c.55A>C (p.Lys19Gln)	SLK (K19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770591	NM_014720.4(SLK):c.316-8G>T	SLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3166157	NM_014720.4(SLK):c.366A>C (p.Glu122Asp)	SLK (E122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207122	NM_014720.4(SLK):c.503A>G (p.Asp168Gly)	SLK (D168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166158	NM_014720.4(SLK):c.670A>G (p.Thr224Ala)	SLK (T224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318136	NM_014720.4(SLK):c.760A>G (p.Thr254Ala)	SLK (T254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621529	NM_014720.4(SLK):c.781T>G (p.Trp261Gly)	SLK (W261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166159	NM_014720.4(SLK):c.827A>G (p.Asn276Ser)	SLK (N276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399617	NM_014720.4(SLK):c.859C>A (p.Leu287Met)	SLK (L287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166143	NM_014720.4(SLK):c.1072T>A (p.Cys358Ser)	SLK (C358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272838	NM_014720.4(SLK):c.1099A>G (p.Thr367Ala)	SLK (T367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320564	NM_014720.4(SLK):c.1105C>T (p.Arg369Cys)	SLK (R369C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166144	NM_014720.4(SLK):c.1157C>T (p.Thr386Ile)	SLK (T386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342504	NM_014720.4(SLK):c.1207G>A (p.Asp403Asn)	SLK (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166145	NM_014720.4(SLK):c.1397A>T (p.Asn466Ile)	SLK (N466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064848	NM_014720.4(SLK):c.1414G>T (p.Glu472Ter)	SLK (E472*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3166146	NM_014720.4(SLK):c.1493C>T (p.Thr498Ile)	SLK (T498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166147	NM_014720.4(SLK):c.1504G>A (p.Val502Ile)	SLK (V502I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166148	NM_014720.4(SLK):c.1561G>T (p.Gly521Trp)	SLK (G521W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236472	NM_014720.4(SLK):c.1607A>G (p.Lys536Arg)	SLK (K536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549541	NM_014720.4(SLK):c.1702G>A (p.Asp568Asn)	SLK (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640812	NM_014720.4(SLK):c.1707G>T (p.Thr569=)	SLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365539	NM_014720.4(SLK):c.1735G>A (p.Glu579Lys)	SLK (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391751	NM_014720.4(SLK):c.1744C>G (p.Gln582Glu)	SLK (Q582E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281157	NM_014720.4(SLK):c.1814T>C (p.Ile605Thr)	SLK (I605T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288845	NM_014720.4(SLK):c.1826A>G (p.Asn609Ser)	SLK (N609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166149	NM_014720.4(SLK):c.1877A>G (p.Asn626Ser)	SLK (N626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233489	NM_014720.4(SLK):c.1879A>T (p.Ile627Leu)	SLK (I627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399528	NM_014720.4(SLK):c.1892A>G (p.Asn631Ser)	SLK (N631S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517340	NM_014720.4(SLK):c.2053G>A (p.Glu685Lys)	SLK (E685K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320565	NM_014720.4(SLK):c.2079G>C (p.Glu693Asp)	SLK (E693D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916392	NM_014720.4(SLK):c.2169_2172del (p.Glu724fs)	SLK (E724fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3166150	NM_014720.4(SLK):c.2203A>G (p.Ile735Val)	SLK (I735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782292	NM_014720.4(SLK):c.2336C>T (p.Ser779Leu)	SLK (S779L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166151	NM_014720.4(SLK):c.2362C>G (p.Gln788Glu)	SLK (Q788E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319745	NM_014720.4(SLK):c.2483G>A (p.Arg828His)	SLK (R828H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250158	NM_014720.4(SLK):c.2608A>G (p.Lys870Glu)	SLK (K870E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251094	NM_014720.4(SLK):c.2677G>C (p.Glu893Gln)	SLK (E893Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391470	NM_014720.4(SLK):c.2707G>A (p.Glu903Lys)	SLK (E903K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166152	NM_014720.4(SLK):c.2809C>A (p.Pro937Thr)	SLK (P937T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320566	NM_014720.4(SLK):c.2834T>C (p.Met945Thr)	SLK (M945T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606313	NM_014720.4(SLK):c.2875C>A (p.Gln959Lys)	SLK (Q959K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319369	NM_014720.4(SLK):c.2918G>A (p.Gly973Asp)	SLK (G973D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270907	NM_014720.4(SLK):c.2931G>T (p.Lys977Asn)	SLK (K946N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209518	NM_014720.4(SLK):c.3098T>G (p.Met1033Arg)	SLK (M1033R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166153	NM_014720.4(SLK):c.3136A>G (p.Thr1046Ala)	SLK (T1046A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166154	NM_014720.4(SLK):c.3158A>G (p.Asn1053Ser)	SLK (N1022S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801367	NM_014720.4(SLK):c.3244C>T (p.Arg1082Ter)	SLK (R1051* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3166155	NM_014720.4(SLK):c.3272G>A (p.Arg1091Lys)	SLK (R1060K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274549	NM_014720.4(SLK):c.3325G>T (p.Ala1109Ser)	SLK (A1078S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166156	NM_014720.4(SLK):c.3400C>G (p.Leu1134Val)	SLK (L1103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362181	NM_014720.4(SLK):c.3427C>T (p.Arg1143Cys)	SLK (R1112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349226	NM_014720.4(SLK):c.3527A>C (p.Lys1176Thr)	SLK (K1145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608371	NM_014720.4(SLK):c.3542A>G (p.Lys1181Arg)	SLK (K1181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 75