ClinVar for Gene (Select 387911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3262422	NM_001007537.3(C1QTNF9B):c.86G>C (p.Gly29Ala)	C1QTNF9B (G29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262421	NM_001007537.3(C1QTNF9B):c.81C>A (p.His27Gln)	C1QTNF9B (H27Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3135812	NM_001007537.3(C1QTNF9B):c.76G>A (p.Gly26Arg)	C1QTNF9B (G26R)	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 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 3135809	NM_001007537.3(C1QTNF9B):c.4A>T (p.Arg2Trp)	C1QTNF9B (R2W)	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 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2643682	NM_001007537.3(C1QTNF9B):c.204G>T (p.Gly68=)	C1QTNF9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600504	NM_001007537.3(C1QTNF9B):c.154A>C (p.Lys52Gln)	C1QTNF9B (K52Q)	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 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 2518333	NM_001007537.3(C1QTNF9B):c.125G>T (p.Arg42Ile)	C1QTNF9B (R42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2407110	NM_001007537.3(C1QTNF9B):c.113G>T (p.Gly38Val)	C1QTNF9B (G38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2388970	NM_001007537.3(C1QTNF9B):c.103G>A (p.Gly35Ser)	C1QTNF9B (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372009	NM_001007537.3(C1QTNF9B):c.143C>A (p.Ala48Glu)	C1QTNF9B (A48E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369696	NM_001007537.3(C1QTNF9B):c.83C>G (p.Pro28Arg)	C1QTNF9B (P28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337701	NM_001007537.3(C1QTNF9B):c.104G>A (p.Gly35Asp)	C1QTNF9B (G35D)	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 2269454	NM_001007537.3(C1QTNF9B):c.169G>A (p.Glu57Lys)	C1QTNF9B (E57K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222895	NM_001007537.3(C1QTNF9B):c.158G>A (p.Gly53Asp)	C1QTNF9B (G53D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1684647	NC_000013.11:g.22924987_24337204del	LOC130009370, LOC130009377 +57 more	Deletion	See cases	GUncertain significance
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 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 775324	NM_001007537.3(C1QTNF9B):c.727T>A (p.Cys243Ser)	C1QTNF9B, PCOTH (C243S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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
Select item 685610	GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564059	GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3	C1QTNF9, C1QTNF9B +6 more	Copy number gain	not provided	GLikely benign
Select item 564058	GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1	SGCG, C1QTNF9 +6 more	Copy number loss	not provided	GUncertain significance
Select item 564057	GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3	PCOTH, C1QTNF9B +6 more	Copy number gain	not provided	GLikely benign
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443972	GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GUncertain significance
Select item 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 443536	GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 443112	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 442429	GRCh37/hg19 13q12.12(chr13:24338224-24641598)x1	C1QTNF9B, MIPEP +1 more	Copy number loss	See cases	GLikely benign
Select item 442192	GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 393738	GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GPathogenic
Select item 268071	GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1	PCOTH, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 253904	GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3	TNFRSF19, C1QTNF9 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 221857	GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3	C1QTNF9B, MIPEP +5 more	Copy number gain	Premature ovarian failure	GBenign
Select item 208634	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	Cardiomyopathy +2 more	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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 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 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
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 149630	GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1	C1QTNF9B, LOC130009379 +10 more	Copy number loss	See cases	GLikely benign
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
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 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance

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