ClinVar for Gene (Select 65975) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338166	E446*	STK33	Single nucleotide variant	not provided	GUncertain significance
Select item 3323321	NM_001352389.2(STK33):c.540A>C (p.Gln180His)	STK33 (Q180H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323320	NM_001352389.2(STK33):c.806C>T (p.Ala269Val)	STK33 (A228V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323319	NM_001352389.2(STK33):c.195C>G (p.Ile65Met)	STK33 (I24M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323318	NM_001352389.2(STK33):c.416A>C (p.Glu139Ala)	STK33 (E98A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323317	NM_001352389.2(STK33):c.334A>G (p.Ile112Val)	STK33 (I71V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 3238650	NM_001352389.2(STK33):c.1235del (p.Thr412fs)	STK33 (T225fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 93	GPathogenic
Select item 3171385	NM_001352389.2(STK33):c.804A>C (p.Leu268Phe)	STK33 (L227F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171384	NM_001352389.2(STK33):c.784A>C (p.Lys262Gln)	STK33 (K75Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171383	NM_001352389.2(STK33):c.752T>C (p.Ile251Thr)	STK33 (I251T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171382	NM_001352389.2(STK33):c.742A>G (p.Ser248Gly)	STK33 (S248G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171380	NM_001352389.2(STK33):c.617G>A (p.Arg206Lys)	STK33 (R206K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171379	NM_001352389.2(STK33):c.526A>G (p.Ile176Val)	STK33 (I135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171378	NM_001352389.2(STK33):c.343A>G (p.Ile115Val)	STK33 (I115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171377	NM_001352389.2(STK33):c.270A>G (p.Gln90=)	STK33	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3171376	NM_001352389.2(STK33):c.190A>G (p.Asn64Asp)	STK33 (N64D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171375	NM_001352389.2(STK33):c.1516G>A (p.Ala506Thr)	STK33 (A465T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171374	NM_001352389.2(STK33):c.1408A>G (p.Ser470Gly)	STK33 (S470G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171372	NM_001352389.2(STK33):c.1388A>G (p.Asn463Ser)	STK33 (N397S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171371	NM_001352389.2(STK33):c.1306G>C (p.Asp436His)	STK33 (D395H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171370	NM_001352389.2(STK33):c.1238C>T (p.Thr413Ile)	STK33 (T413I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171369	NM_001352389.2(STK33):c.1223T>A (p.Val408Asp)	STK33 (V367D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685397	GRCh37/hg19 11p15.4(chr11:8369292-8458749)x1	STK33	Copy number loss	not provided	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 specified +1 more	GConflicting classifications of pathogenicity
Select item 2617246	NM_001352389.2(STK33):c.718A>C (p.Lys240Gln)	STK33 (K240Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603723	NM_001352389.2(STK33):c.1256C>T (p.Pro419Leu)	STK33 (P378L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2529650	NM_001352389.2(STK33):c.962C>T (p.Pro321Leu)	STK33 (P134L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524179	NM_001352389.2(STK33):c.667G>A (p.Ala223Thr)	STK33 (A182T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512127	NM_001352389.2(STK33):c.602A>G (p.Lys201Arg)	STK33 (K201R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2467490	NM_001352389.2(STK33):c.897C>G (p.Asp299Glu)	STK33 (D258E +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2387947	NM_001352389.2(STK33):c.1463C>A (p.Thr488Asn)	STK33 (T422N +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2386177	NM_001352389.2(STK33):c.1105A>G (p.Arg369Gly)	STK33 (R182G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385272	NM_001352389.2(STK33):c.595G>C (p.Glu199Gln)	STK33 (E158Q +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2354057	NM_001352389.2(STK33):c.934G>A (p.Val312Ile)	STK33 (V312I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331342	NM_001352389.2(STK33):c.148A>G (p.Ser50Gly)	STK33 (S50G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2299232	NM_001352389.2(STK33):c.1398G>C (p.Met466Ile)	STK33 (M466I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264279	NM_001352389.2(STK33):c.1096C>G (p.Pro366Ala)	STK33 (P366A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228182	NM_001352389.2(STK33):c.1526G>C (p.Arg509Thr)	STK33 (R322T +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +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	AKIP1, ANO9 +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	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
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 253858	GRCh37/hg19 11p15.4(chr11:8060216-8637954)x3	TRIM66, STK33 +3 more	Copy number gain	See cases	GUncertain significance
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 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 66