29788[HGNC] - ClinVar

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Items: 51

	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 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 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 152619	GRCh38/hg38 13q12.2(chr13:27302645-27496550)x3	GTF3A, LOC124849302 +14 more	Copy number gain	See cases	GLikely benign
Select item 2214143	NM_152912.5(MTIF3):c.791A>C (p.Asn264Thr)	GTF3A, MTIF3 (N264T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351580	NM_152912.5(MTIF3):c.686C>T (p.Ala229Val)	MTIF3 (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554341	NM_152912.5(MTIF3):c.667T>C (p.Phe223Leu)	MTIF3 (F223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549599	NM_152912.5(MTIF3):c.512A>T (p.Asp171Val)	MTIF3 (D171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467500	NM_152912.5(MTIF3):c.506A>C (p.Gln169Pro)	MTIF3 (Q169P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213918	NM_152912.5(MTIF3):c.439G>C (p.Glu147Gln)	MTIF3 (E147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401007	NM_152912.5(MTIF3):c.418C>T (p.Arg140Trp)	MTIF3 (R140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445609	NM_152912.5(MTIF3):c.413A>G (p.Gln138Arg)	MTIF3 (Q138R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3215566	NM_152912.5(MTIF3):c.335G>A (p.Arg112Gln)	MTIF3 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475624	NM_152912.5(MTIF3):c.287A>G (p.Asp96Gly)	MTIF3 (D96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552527	NM_152912.5(MTIF3):c.232G>A (p.Val78Ile)	MTIF3 (V78I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296657	NM_152912.5(MTIF3):c.161C>G (p.Ala54Gly)	MTIF3 (A54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296658	NM_152912.5(MTIF3):c.14T>C (p.Phe5Ser)	MTIF3 (F5S)	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 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 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 973606	GRCh37/hg19 13q12.2(chr13:27876782-28102260)x3	GTF3A, MTIF3	Copy number gain	Hypotonia +2 more	GUncertain significance
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 564023	GRCh37/hg19 13q12.13-12.2(chr13:27791834-28090642)x3	GTF3A, MTIF3 +2 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 51