ClinVar for Gene (Select 219409) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283034	NM_145657.3(GSX1):c.208C>A (p.Pro70Thr)	GSX1 (P70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283033	NM_145657.3(GSX1):c.148C>G (p.Arg50Gly)	GSX1 (R50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244219	NC_000013.10:g.(?_27827914)_(29252239_?)dup	CDX2, FLT1 +13 more	Duplication	not provided	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 3103011	NM_145657.3(GSX1):c.325G>A (p.Gly109Ser)	GSX1 (G109S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103009	NM_145657.3(GSX1):c.166T>C (p.Cys56Arg)	GSX1 (C56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103008	NM_145657.3(GSX1):c.100C>A (p.Pro34Thr)	GSX1 (P34T)	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 2684695	GRCh37/hg19 13q12.2(chr13:27847281-28473992)x3	GSX1, GTF3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2595509	NM_145657.3(GSX1):c.42G>C (p.Glu14Asp)	GSX1 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534830	NM_145657.3(GSX1):c.82C>T (p.Leu28Phe)	GSX1 (L28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487291	NM_145657.3(GSX1):c.202C>A (p.His68Asn)	GSX1 (H68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468232	NM_145657.3(GSX1):c.16C>A (p.Leu6Met)	GSX1 (L6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373274	NM_145657.3(GSX1):c.275A>G (p.His92Arg)	GSX1 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362493	NM_145657.3(GSX1):c.211C>T (p.Pro71Ser)	GSX1 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329675	NM_145657.3(GSX1):c.276C>A (p.His92Gln)	GSX1 (H92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297324	NM_145657.3(GSX1):c.206G>A (p.Gly69Glu)	GSX1 (G69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288979	NM_145657.3(GSX1):c.188C>A (p.Thr63Asn)	GSX1 (T63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272054	NM_145657.3(GSX1):c.276C>G (p.His92Gln)	GSX1 (H92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219811	NM_145657.3(GSX1):c.235C>T (p.Leu79Phe)	GSX1 (L79F)	Single nucleotide variant (missense variant)	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 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
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 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 815577	GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3	GSX1, LNX2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 722206	NM_145657.3(GSX1):c.364A>T (p.Thr122Ser)	GSX1 (T122S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722205	NM_145657.3(GSX1):c.363G>A (p.Gln121=)	GSX1	Single nucleotide variant (synonymous variant)	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 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
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 443090	GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3	CDX2, FLT1 +8 more	Copy number gain	See cases	GUncertain significance
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 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	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 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 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 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55