ClinVar for Gene (Select 55351) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3270743	NM_018659.3(CYTL1):c.53C>G (p.Pro18Arg)	CYTL1, STK32B (P18R)	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	Curry-Hall syndrome +1 more	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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	CTBP1, CYTL1 +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
Select item 2685037	GRCh37/hg19 4p16.2(chr4:5384621-5741262)x4	EVC, EVC2 +2 more	Copy number gain	not provided	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 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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	PPP2R2C, PROM1 +132 more	Copy number loss	not provided	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
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 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 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 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 2424447	NC_000004.11:g.(?_4861627)_(6304195_?)del	JAKMIP1, LINC01587 +8 more	Deletion	Hypoplastic enamel-onycholysis-hypohidrosis syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 1809010	GRCh37/hg19 4p16.2(chr4:4955520-5440181)x3	CYTL1, STK32B	Copy number gain	not provided	GUncertain significance
Select item 1808882	GRCh37/hg19 4p16.2(chr4:5384476-5738214)x3	EVC, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707634	GRCh37/hg19 4p16.2(chr4:5147197-5432416)x1	STK32B	Copy number loss	Syndromic anorectal malformation	Gassociation
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1527072	GRCh37/hg19 4p16.2(chr4:5413698-5619562)	EVC2, LINC01587 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527070	GRCh37/hg19 4p16.2(chr4:5241679-5762161)	EVC, EVC2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1411440	NC_000004.11:g.(?_4861627)_(6304195_?)dup	C4orf50, CRMP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1341315	GRCh37/hg19 4p16.2(chr4:5390636-5738263)x3	EVC, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341274	GRCh37/hg19 4p16.2(chr4:5109395-5270117)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	ADRA2C, CYTL1 +28 more	Deletion	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979453	GRCh37/hg19 4p16.2-16.1(chr4:4896232-6366623)x1	EVC, C4orf50 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979452	GRCh37/hg19 4p16.2(chr4:4955519-5440181)x3	STK32B, CYTL1	Copy number gain	not provided	GUncertain significance
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
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 785082	NM_018401.3(STK32B):c.563-8G>T	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780457	NM_018401.3(STK32B):c.1141T>C (p.Leu381=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780456	NM_018401.3(STK32B):c.300G>A (p.Val100=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778139	NM_018401.3(STK32B):c.30C>A (p.Pro10=)	STK32B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748283	NM_018401.3(STK32B):c.1038G>A (p.Pro346=)	STK32B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712544	NM_018401.3(STK32B):c.563-8G>A	STK32B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689237	GRCh37/hg19 4p16.2(chr4:5413698-5633311)x3	EVC2, LINC01587 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562888	GRCh37/hg19 4p16.2(chr4:5384620-5738182)x3	STK32B, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562887	GRCh37/hg19 4p16.2(chr4:5221537-5440181)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 562886	GRCh37/hg19 4p16.2(chr4:5133065-5319773)x1	STK32B	Copy number loss	not provided	GUncertain significance
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic

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