STK32B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 57826	GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3	CYTL1, EVC +29 more	Copy number gain	See cases	GUncertain significance
Select item 57095	GRCh38/hg38 4p16.2(chr4:4810396-5212384)x3	CYTL1, LINC01396 +13 more	Copy number gain	See cases	GUncertain significance
Select item 149779	GRCh38/hg38 4p16.2(chr4:4978146-5455904)x1	CYTL1, LOC101928306 +8 more	Copy number loss	See cases	GLikely benign
Select item 3270743	NM_018659.3(CYTL1):c.53C>G (p.Pro18Arg)	CYTL1, STK32B (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146373	GRCh38/hg38 4p16.2(chr4:5034932-5344810)x1	LOC123466223, LOC123466224 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2295643	NM_018401.3(STK32B):c.13C>A (p.His5Asn)	STK32B (H5N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323309	NM_018401.3(STK32B):c.28C>T (p.Pro10Ser)	STK32B (P10S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 778139	NM_018401.3(STK32B):c.30C>A (p.Pro10=)	STK32B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2509770	NM_018401.3(STK32B):c.56A>C (p.Asn19Thr)	STK32B (N19T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 809612	NM_018401.3(STK32B):c.127C>A (p.Arg43=)	STK32B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2539528	NM_018401.3(STK32B):c.170A>G (p.Gln57Arg)	STK32B (Q10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600190	NM_018401.3(STK32B):c.208C>T (p.Arg70Trp)	STK32B (R23W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 150521	GRCh38/hg38 4p16.2(chr4:5185148-5401207)x1	LOC123466224, LOC126806959 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3171351	NM_018401.3(STK32B):c.292A>G (p.Met98Val)	STK32B (M98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780456	NM_018401.3(STK32B):c.300G>A (p.Val100=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171352	NM_018401.3(STK32B):c.325C>T (p.Arg109Cys)	STK32B (R109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171353	NM_018401.3(STK32B):c.328T>C (p.Tyr110His)	STK32B (Y63H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323311	NM_018401.3(STK32B):c.332A>G (p.His111Arg)	STK32B (H111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207871	NM_018401.3(STK32B):c.487A>G (p.Thr163Ala)	STK32B (T163A +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2231586	NM_018401.3(STK32B):c.503C>T (p.Ala168Val)	STK32B (A168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171354	NM_018401.3(STK32B):c.506C>T (p.Thr169Met)	STK32B (T122M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785082	NM_018401.3(STK32B):c.563-8G>T	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712544	NM_018401.3(STK32B):c.563-8G>A	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2211678	NM_018401.3(STK32B):c.659G>A (p.Arg220Gln)	STK32B (R173Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246318	NM_018401.3(STK32B):c.688G>A (p.Val230Ile)	STK32B (V183I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171355	NM_018401.3(STK32B):c.697A>G (p.Ile233Val)	STK32B (I233V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325347	NM_018401.3(STK32B):c.715A>G (p.Met239Val)	STK32B (M209V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171356	NM_018401.3(STK32B):c.737A>G (p.His246Arg)	STK32B (H216R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595779	NM_018401.3(STK32B):c.749C>T (p.Thr250Met)	STK32B (T220M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323310	NM_018401.3(STK32B):c.755G>C (p.Cys252Ser)	STK32B (C205S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171357	NM_018401.3(STK32B):c.802G>A (p.Glu268Lys)	STK32B (E238K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171358	NM_018401.3(STK32B):c.811G>A (p.Val271Met)	STK32B (V271M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547520	NM_018401.3(STK32B):c.814T>C (p.Ser272Pro)	STK32B (S225P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171360	NM_018401.3(STK32B):c.856A>G (p.Met286Val)	STK32B (M256V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375055	NM_018401.3(STK32B):c.868G>A (p.Ala290Thr)	STK32B (A243T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409542	NM_018401.3(STK32B):c.869C>T (p.Ala290Val)	STK32B (A260V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463791	NM_018401.3(STK32B):c.886C>G (p.Leu296Val)	STK32B (L249V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355983	NM_018401.3(STK32B):c.970C>T (p.Pro324Ser)	STK32B (P294S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171361	NM_018401.3(STK32B):c.988A>C (p.Lys330Gln)	STK32B (K283Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410725	NM_018401.3(STK32B):c.1004A>G (p.Asn335Ser)	STK32B (N288S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270912	NM_018401.3(STK32B):c.1010C>A (p.Ser337Tyr)	STK32B (S290Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748283	NM_018401.3(STK32B):c.1038G>A (p.Pro346=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217736	NM_018401.3(STK32B):c.1090A>G (p.Ile364Val)	STK32B (I317V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323308	NM_018401.3(STK32B):c.1123G>A (p.Gly375Arg)	STK32B (G375R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780457	NM_018401.3(STK32B):c.1141T>C (p.Leu381=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347213	NM_018401.3(STK32B):c.1191C>G (p.Asp397Glu)	STK32B (D350E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171349	NM_018401.3(STK32B):c.1197C>G (p.Cys399Trp)	STK32B (C352W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220514	NM_018401.3(STK32B):c.1204A>C (p.Asn402His)	STK32B (N402H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171350	NM_018401.3(STK32B):c.1226C>T (p.Thr409Ile)	STK32B (T362I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246634	NC_000004.11:g.(?_5458281)_(5586509_?)del	EVC2, LINC01587 +1 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685101	GRCh37/hg19 4p16.2(chr4:4905056-5064194)x1	CYTL1, STK32B	Copy number loss	not provided	GUncertain significance

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