ClinVar for Gene (Select 282974) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171367	NM_173575.4(STK32C):c.574A>T (p.Thr192Ser)	STK32C (T205S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171366	NM_173575.4(STK32C):c.1421C>T (p.Pro474Leu)	STK32C (P474L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171365	NM_173575.4(STK32C):c.1388C>A (p.Pro463His)	STK32C (P476H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171364	NM_173575.4(STK32C):c.1385A>G (p.Glu462Gly)	STK32C (E462G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171363	NM_173575.4(STK32C):c.1346G>A (p.Arg449Lys)	STK32C (R332K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171362	NM_173575.4(STK32C):c.1070T>C (p.Leu357Pro)	STK32C (L240P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3064185	NM_173575.4(STK32C):c.451G>C (p.Val151Leu)	STK32C (V151L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684628	GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3	BNIP3, DPYSL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2609124	NM_173575.4(STK32C):c.112C>G (p.Pro38Ala)	STK32C (P38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553191	NM_173575.4(STK32C):c.637A>C (p.Ile213Leu)	STK32C (I226L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546069	NM_173575.4(STK32C):c.943G>A (p.Val315Ile)	STK32C (V328I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520458	NM_173575.4(STK32C):c.1430G>T (p.Gly477Val)	STK32C (G490V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2493046	NM_173575.4(STK32C):c.338G>A (p.Arg113Gln)	STK32C (R113Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491160	NM_173575.4(STK32C):c.1105G>A (p.Gly369Ser)	STK32C (G382S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484505	NM_173575.4(STK32C):c.388A>G (p.Ile130Val)	STK32C (I13V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460708	NM_173575.4(STK32C):c.400G>A (p.Glu134Lys)	STK32C (E147K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459655	NM_173575.4(STK32C):c.1339C>T (p.Leu447Phe)	STK32C (L460F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366721	NM_173575.4(STK32C):c.1409G>A (p.Arg470His)	STK32C (R353H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2313131	NM_173575.4(STK32C):c.80C>G (p.Ala27Gly)	STK32C (A27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295529	NM_173575.4(STK32C):c.1126C>G (p.Arg376Gly)	STK32C (R376G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291151	NM_173575.4(STK32C):c.1094G>T (p.Arg365Met)	STK32C (R248M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257229	NM_173575.4(STK32C):c.452T>A (p.Val151Asp)	STK32C (V34D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256192	NM_173575.4(STK32C):c.128C>T (p.Pro43Leu)	STK32C (P43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225179	NM_173575.4(STK32C):c.1085G>C (p.Ser362Thr)	STK32C (S245T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979910	GRCh37/hg19 10q26.3(chr10:133833614-134198380)x3	JAKMIP3, STK32C +2 more	Copy number gain	not provided	GLikely benign
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 790633	NM_173575.4(STK32C):c.519A>C (p.Leu173=)	STK32C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783587	NM_173575.4(STK32C):c.1400A>G (p.Glu467Gly)	STK32C (E350G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768402	NM_173575.4(STK32C):c.624C>T (p.Arg208=)	STK32C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716418	NM_173575.4(STK32C):c.1455C>T (p.Ser485=)	STK32C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712971	NM_001318878.2(STK32C):c.196A>G (p.Asn66Asp)	STK32C, LRRC27 (N66D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708796	NM_173575.4(STK32C):c.1341C>G (p.Leu447=)	STK32C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563785	GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1	CFAP46, ECHS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563776	GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4	STK32C, ECHS1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 442903	GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	ADAM12, ADAM8 +41 more	Copy number loss	See cases	GPathogenic
Select item 442485	GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1	ADAM8, ADGRA1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 442293	GRCh37/hg19 10q26.3(chr10:134040839-134916269)x3	ADGRA1, CFAP46 +7 more	Copy number gain	See cases	GUncertain significance
Select item 442275	GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3	ADAM8, ADGRA1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 442270	GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1	BNIP3, CFAP46 +15 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 395021	GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1	ADAM8, ADGRA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	LOC110120928, LOC110121444 +311 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic

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