STK38L[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 154023	GRCh38/hg38 12p11.23-11.22(chr12:27128969-27636702)x3	BMAL2, BMAL2-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 145487	GRCh38/hg38 12p11.23-11.22(chr12:27153357-27607134)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 150105	GRCh38/hg38 12p11.23-11.22(chr12:27153387-27607219)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 59014	GRCh38/hg38 12p11.23-11.22(chr12:27161598-27642483)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 58209	GRCh38/hg38 12p11.23-11.22(chr12:27192518-27615518)x3	BMAL2, BMAL2-AS1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 146584	GRCh38/hg38 12p11.23(chr12:27225978-27575769)x3	BMAL2, BMAL2-AS1 +18 more	Copy number gain	See cases	GBenign
Select item 3039732	NM_015000.4(STK38L):c.-7C>T	STK38L	Single nucleotide variant (5 prime UTR variant)	STK38L-related disorder	GBenign
Select item 786605	NM_015000.4(STK38L):c.18G>T (p.Gly6=)	STK38L	Single nucleotide variant (synonymous variant)	STK38L-related disorder +1 more	GBenign
Select item 3323341	NM_015000.4(STK38L):c.28A>G (p.Thr10Ala)	STK38L (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055581	NM_015000.4(STK38L):c.187-6dup	STK38L	Duplication (intron variant)	STK38L-related disorder	GLikely benign
Select item 2553115	NM_015000.4(STK38L):c.235C>T (p.Arg79Trp)	STK38L (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477544	NM_015000.4(STK38L):c.477T>G (p.Asp159Glu)	STK38L (D159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327152	NM_015000.4(STK38L):c.590C>T (p.Thr197Ile)	STK38L (T197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050647	NM_015000.4(STK38L):c.673-3del	STK38L	Deletion (intron variant)	STK38L-related disorder	GLikely benign
Select item 3171418	NM_015000.4(STK38L):c.785A>G (p.Asn262Ser)	STK38L (N262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508041	NM_015000.4(STK38L):c.939G>A (p.Met313Ile)	STK38L (M313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222684	NM_015000.4(STK38L):c.1109G>C (p.Gly370Ala)	STK38L (G370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218668	NM_015000.4(STK38L):c.1148T>C (p.Phe383Ser)	STK38L (F383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389006	NM_015000.4(STK38L):c.1171A>G (p.Ile391Val)	STK38L (I391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728963	NM_015000.4(STK38L):c.1353A>G (p.Gln451=)	STK38L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171417	NM_015000.4(STK38L):c.1375A>G (p.Met459Val)	STK38L (M459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1706507	GRCh37/hg19 12p11.23(chr12:27281902-27796511)x3	SMCO2, STK38L +2 more	Copy number gain	See cases	GUncertain significance
Select item 1527701	GRCh37/hg19 12p11.23(chr12:27281902-27789635)	BMAL2, PPFIBP1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815516	GRCh37/hg19 12p11.23(chr12:27236795-27796425)x1	PPFIBP1, SMCO2 +2 more	Copy number loss	not provided	GLikely benign
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685020	GRCh37/hg19 12p11.23(chr12:27350549-27492738)x1	BMAL2, STK38L	Copy number loss	not provided	GUncertain significance
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563951	GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1	PPFIBP1, STK38L +2 more	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443534	GRCh37/hg19 12p11.23(chr12:27293748-27796425)x0	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443267	GRCh37/hg19 12p11.23(chr12:27285092-27797629)x1	STK38L, BMAL2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442956	GRCh37/hg19 12p11.23(chr12:27281880-27793755)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442465	GRCh37/hg19 12p11.23(chr12:27285092-27797905)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442409	GRCh37/hg19 12p11.23(chr12:27285092-27796425)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GLikely benign
Select item 442372	GRCh37/hg19 12p11.23(chr12:27282008-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 442352	GRCh37/hg19 12p11.23(chr12:27278040-27789700)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442254	GRCh37/hg19 12p11.23(chr12:27281902-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 393975	GRCh37/hg19 12p11.23(chr12:27306320-27788422)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 64