ClinVar for Gene (Select 338872) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, 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 3135807	NM_178540.5(C1QTNF9):c.967A>G (p.Thr323Ala)	C1QTNF9 (T323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135806	NM_178540.5(C1QTNF9):c.388G>A (p.Val130Met)	C1QTNF9 (V130M)	Single nucleotide variant (missense variant)	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 2588892	NM_178540.5(C1QTNF9):c.452C>T (p.Pro151Leu)	C1QTNF9 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554427	NM_178540.5(C1QTNF9):c.590T>C (p.Leu197Pro)	C1QTNF9 (L197P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549066	NM_178540.5(C1QTNF9):c.65C>A (p.Thr22Asn)	C1QTNF9 (T22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542050	NM_178540.5(C1QTNF9):c.110A>G (p.Asn37Ser)	C1QTNF9 (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536611	NM_178540.5(C1QTNF9):c.580G>A (p.Gly194Ser)	C1QTNF9 (G194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518332	NM_178540.5(C1QTNF9):c.125G>T (p.Arg42Ile)	C1QTNF9 (R42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472810	NM_178540.5(C1QTNF9):c.160G>A (p.Asp54Asn)	C1QTNF9 (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462125	NM_178540.5(C1QTNF9):c.532C>T (p.Arg178Trp)	C1QTNF9 (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2409112	NM_178540.5(C1QTNF9):c.730C>T (p.His244Tyr)	C1QTNF9 (H244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403294	NM_178540.5(C1QTNF9):c.995G>A (p.Ser332Asn)	C1QTNF9 (S332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393253	NM_178540.5(C1QTNF9):c.108C>G (p.His36Gln)	C1QTNF9 (H36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391165	NM_178540.5(C1QTNF9):c.506C>T (p.Thr169Met)	C1QTNF9 (T169M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389794	NM_178540.5(C1QTNF9):c.516G>C (p.Gln172His)	C1QTNF9 (Q172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374697	NM_178540.5(C1QTNF9):c.725C>T (p.Thr242Met)	C1QTNF9 (T242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334233	NM_178540.5(C1QTNF9):c.784G>C (p.Val262Leu)	C1QTNF9 (V262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333862	NM_178540.5(C1QTNF9):c.304C>T (p.Pro102Ser)	C1QTNF9 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315735	NM_178540.5(C1QTNF9):c.143C>T (p.Ala48Val)	C1QTNF9 (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312241	NM_178540.5(C1QTNF9):c.139G>A (p.Gly47Arg)	C1QTNF9 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308434	NM_178540.5(C1QTNF9):c.616G>T (p.Val206Leu)	C1QTNF9 (V206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278303	NM_178540.5(C1QTNF9):c.991A>G (p.Ser331Gly)	C1QTNF9 (S331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257448	NM_178540.5(C1QTNF9):c.688G>A (p.Glu230Lys)	C1QTNF9 (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235570	NM_178540.5(C1QTNF9):c.111T>A (p.Asn37Lys)	C1QTNF9 (N37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221682	NM_178540.5(C1QTNF9):c.868G>A (p.Gly290Ser)	C1QTNF9 (G290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807582	GRCh37/hg19 13q12.12(chr13:24885345-25432676)x3	ATP12A, C1QTNF9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +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)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1684647	NC_000013.11:g.22924987_24337204del	LINC00566, LOC106783494 +57 more	Deletion	See cases	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +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	ARGLU1, FBXL3 +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	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +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 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	AKAP11, ALG11 +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	PARP4, PCOTH +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 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)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +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	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
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	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 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	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 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	LOC130010147, LOC130010148 +2049 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 150201	GRCh38/hg38 13q12.12(chr13:24253545-24534736)x3	C1QTNF9, LINC00566 +12 more	Copy number gain	See cases	GLikely benign
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 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 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	LOC130009528, LOC130009529 +620 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	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 145024	GRCh38/hg38 13q12.12(chr13:24202115-24336546)x3	C1QTNF9, LINC00566 +12 more	Copy number gain	See cases	GBenign
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 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
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)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

ClinVar

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Links from Gene

Items: 100