STK33[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 2228182	NM_001352389.2(STK33):c.1526G>C (p.Arg509Thr)	STK33 (R322T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387947	NM_001352389.2(STK33):c.1463C>A (p.Thr488Asn)	STK33 (T422N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299232	NM_001352389.2(STK33):c.1398G>C (p.Met466Ile)	STK33 (M466I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641580	NM_001352389.2(STK33):c.1286A>C (p.Gln429Pro)	STK33 (Q242P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2603723	NM_001352389.2(STK33):c.1256C>T (p.Pro419Leu)	STK33 (P378L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456755	NM_001352389.2(STK33):c.1256C>G (p.Pro419Arg)	STK33 (P419R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300280	NM_001352389.2(STK33):c.1229A>G (p.Glu410Gly)	STK33 (E223G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356148	NM_001352389.2(STK33):c.1211A>G (p.Asn404Ser)	STK33 (N404S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386177	NM_001352389.2(STK33):c.1105A>G (p.Arg369Gly)	STK33 (R182G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264279	NM_001352389.2(STK33):c.1096C>G (p.Pro366Ala)	STK33 (P366A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376702	NM_001352389.2(STK33):c.969T>G (p.Phe323Leu)	STK33 (F136L +2 more)	Single nucleotide variant (missense variant)	Neoplasm of the pancreas	GLikely pathogenic
Select item 2529650	NM_001352389.2(STK33):c.962C>T (p.Pro321Leu)	STK33 (P134L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354057	NM_001352389.2(STK33):c.934G>A (p.Val312Ile)	STK33 (V312I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467490	NM_001352389.2(STK33):c.897C>G (p.Asp299Glu)	STK33 (D258E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617246	NM_001352389.2(STK33):c.718A>C (p.Lys240Gln)	STK33 (K240Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524179	NM_001352389.2(STK33):c.667G>A (p.Ala223Thr)	STK33 (A182T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512127	NM_001352389.2(STK33):c.602A>G (p.Lys201Arg)	STK33 (K201R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385272	NM_001352389.2(STK33):c.595G>C (p.Glu199Gln)	STK33 (E158Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456454	NM_001352389.2(STK33):c.415G>A (p.Glu139Lys)	STK33 (E139K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206776	NM_001352389.2(STK33):c.320A>G (p.Glu107Gly)	STK33 (E66G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386285	NM_001352389.2(STK33):c.278G>A (p.Arg93Gln)	STK33 (R52Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568935	NM_001352389.2(STK33):c.277C>T (p.Arg93Trp)	STK33 (R52W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331342	NM_001352389.2(STK33):c.148A>G (p.Ser50Gly)	STK33 (S50G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391417	NM_001352389.2(STK33):c.142A>G (p.Ile48Val)	STK33 (I7V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685397	GRCh37/hg19 11p15.4(chr11:8369292-8458749)x1	STK33	Copy number loss	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 253858	GRCh37/hg19 11p15.4(chr11:8060216-8637954)x3	TRIM66, STK33 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 43