PCOTH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC130009370, LOC130009377 +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57252	GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1	C1QTNF9B, LOC121466729 +22 more	Copy number loss	See cases	GUncertain significance
Select item 149630	GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1	C1QTNF9B, LOC130009379 +10 more	Copy number loss	See cases	GLikely benign
Select item 1223310	NM_005932.4(MIPEP):c.189+139G>C	MIPEP, PCOTH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1964313	NM_005932.4(MIPEP):c.189+10G>A	MIPEP, PCOTH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3126689	NM_005932.4(MIPEP):c.189+5_189+6delinsAA	MIPEP, PCOTH	Indel (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1926951	NM_005932.4(MIPEP):c.188G>T (p.Arg63Leu)	MIPEP, PCOTH (R63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126688	NM_005932.4(MIPEP):c.185G>C (p.Arg62Pro)	MIPEP, PCOTH (R62P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709907	NM_005932.4(MIPEP):c.184C>T (p.Arg62Cys)	PCOTH, MIPEP (R62C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2862922	NM_005932.4(MIPEP):c.167T>G (p.Leu56Trp)	MIPEP, PCOTH (L56W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297854	NM_005932.4(MIPEP):c.146_157del (p.Val49_Gln52del)	MIPEP, PCOTH	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1955725	NM_005932.4(MIPEP):c.153C>T (p.Pro51=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418156	NM_005932.4(MIPEP):c.138C>G (p.Ala46=)	PCOTH, MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806993	NM_005932.4(MIPEP):c.104G>T (p.Arg35Met)	MIPEP, PCOTH (R35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919393	NM_005932.4(MIPEP):c.87C>T (p.Ala29=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421629	NM_005932.4(MIPEP):c.82G>A (p.Glu28Lys)	MIPEP, PCOTH (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998360	NM_005932.4(MIPEP):c.69C>T (p.Gly23=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3126694	NM_005932.4(MIPEP):c.64G>A (p.Ala22Thr)	MIPEP, PCOTH (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301187	NM_005932.4(MIPEP):c.59G>A (p.Arg20His)	MIPEP, PCOTH (R20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787409	NM_005932.4(MIPEP):c.46G>T (p.Ala16Ser)	MIPEP, PCOTH (A16S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1030040	NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr)	MIPEP, PCOTH (A14T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2579965	NM_005932.4(MIPEP):c.18G>T (p.Arg6Ser)	MIPEP, PCOTH (R6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715262	NM_005932.4(MIPEP):c.15A>C (p.Gly5=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1276392	NC_000013.11:g.23889479C>G	MIPEP, PCOTH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2476256	NM_001007537.3(C1QTNF9B):c.958G>A (p.Asp320Asn)	C1QTNF9B, PCOTH (D320N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527777	NM_001007537.3(C1QTNF9B):c.957C>A (p.Asp319Glu)	C1QTNF9B, PCOTH (D319E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710181	NM_001007537.3(C1QTNF9B):c.957C>T (p.Asp319=)	C1QTNF9B, PCOTH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2485159	NM_001007537.3(C1QTNF9B):c.941T>C (p.Leu314Ser)	C1QTNF9B, PCOTH (L314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135814	NM_001007537.3(C1QTNF9B):c.935A>G (p.Asn312Ser)	C1QTNF9B, PCOTH (N312S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262423	NM_001007537.3(C1QTNF9B):c.929G>A (p.Arg310Lys)	C1QTNF9B, PCOTH (R310K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321978	NM_001007537.3(C1QTNF9B):c.904T>G (p.Trp302Gly)	C1QTNF9B, PCOTH (W302G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135813	NM_001007537.3(C1QTNF9B):c.872T>G (p.Ile291Ser)	C1QTNF9B, PCOTH (I291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471716	NM_001007537.3(C1QTNF9B):c.868A>G (p.Ser290Gly)	C1QTNF9B, PCOTH (S290G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395464	NM_001007537.3(C1QTNF9B):c.841G>A (p.Val281Met)	C1QTNF9B, PCOTH (V281M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789633	NM_001007537.3(C1QTNF9B):c.830G>A (p.Arg277Lys)	C1QTNF9B, PCOTH (R277K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2525597	NM_001007537.3(C1QTNF9B):c.791T>A (p.Val264Glu)	C1QTNF9B, PCOTH (V264E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135811	NM_001007537.3(C1QTNF9B):c.746A>G (p.Tyr249Cys)	C1QTNF9B, PCOTH (Y249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775324	NM_001007537.3(C1QTNF9B):c.727T>A (p.Cys243Ser)	C1QTNF9B, PCOTH (C243S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3135810	NM_001007537.3(C1QTNF9B):c.589C>G (p.Leu197Val)	C1QTNF9B, PCOTH (L197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135808	NM_001007537.3(C1QTNF9B):c.347G>A (p.Gly116Glu)	C1QTNF9B, PCOTH (G116E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244163	NC_000013.10:g.(?_23894756)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3148846	GRCh37/hg19 13q12.12(chr13:23564568-24888355)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2425448	NC_000013.10:g.(?_23667335)_(24463459_?)dup	MIPEP, PCOTH +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2425447	NC_000013.10:g.(?_24293859)_(24463459_?)del	MIPEP, PCOTH	Deletion	not provided	GUncertain significance
Select item 2422612	NC_000013.10:g.(?_23898487)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1708185	GRCh37/hg19 13q12.12(chr13:23981973-24963501)x3	C1QTNF9, C1QTNF9B +5 more	Copy number gain	See cases	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527755	GRCh37/hg19 13q12.12(chr13:24222769-24492936)	C1QTNF9B, MIPEP +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527754	GRCh37/hg19 13q12.12(chr13:23981973-24479811)	C1QTNF9B, MIPEP +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341219	GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3	ATP12A, C1QTNF9 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340152	GRCh37/hg19 13q12.12(chr13:23553363-24970361)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988909	GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3	ATP12A, C1QTNF9 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 815575	GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3	MIPEP, C1QTNF9 +6 more	Copy number gain	not provided	GLikely benign
Select item 815574	GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687349	GRCh37/hg19 13q12.12(chr13:24217091-24495140)x1	C1QTNF9B, MIPEP +2 more	Copy number loss	not provided	GUncertain significance
Select item 687240	GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 685978	GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 685911	GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance

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