7453[HGNC] - ClinVar

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Items: 66

	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 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance
Select item 2379808	NM_004685.5(MTMR6):c.1778A>G (p.Asn593Ser)	MTMR6 (N534S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568685	NM_004685.5(MTMR6):c.1769C>T (p.Pro590Leu)	MTMR6 (P531L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3216462	NM_004685.5(MTMR6):c.1700C>T (p.Ser567Phe)	MTMR6 (P525S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296715	NM_004685.5(MTMR6):c.1663C>T (p.His555Tyr)	MTMR6 (H496Y +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280946	NM_004685.5(MTMR6):c.1640G>A (p.Gly547Asp)	MTMR6 (A505T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473978	NM_004685.5(MTMR6):c.1619G>A (p.Arg540His)	MTMR6 (R495H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2362868	NM_004685.5(MTMR6):c.1565A>G (p.Gln522Arg)	MTMR6 (Q463R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290730	NM_004685.5(MTMR6):c.1453C>T (p.Pro485Ser)	MTMR6 (P467S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610410	NM_004685.5(MTMR6):c.1436G>A (p.Arg479Lys)	MTMR6 (R434K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2293102	NM_004685.5(MTMR6):c.1426G>A (p.Glu476Lys)	MTMR6 (E431K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2621230	NM_004685.5(MTMR6):c.1420A>T (p.Ser474Cys)	MTMR6 (S429C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272570	NM_004685.5(MTMR6):c.1336G>A (p.Glu446Lys)	MTMR6 (E310K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270704	NM_004685.5(MTMR6):c.1289A>G (p.His430Arg)	MTMR6 (H294R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527566	NM_004685.5(MTMR6):c.1258G>C (p.Ala420Pro)	MTMR6 (A284P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600416	NM_004685.5(MTMR6):c.1225G>A (p.Glu409Lys)	MTMR6 (E273K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216435	NM_004685.5(MTMR6):c.1219T>G (p.Leu407Val)	MTMR6 (L364V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296712	NM_004685.5(MTMR6):c.973A>G (p.Ile325Val)	MTMR6 (I363V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309552	NM_004685.5(MTMR6):c.926G>A (p.Arg309His)	MTMR6 (R291H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296713	NM_004685.5(MTMR6):c.863A>G (p.Asn288Ser)	MTMR6 (N270S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296716	NM_004685.5(MTMR6):c.782A>G (p.Tyr261Cys)	MTMR6 (Y125C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296711	NM_004685.5(MTMR6):c.736A>G (p.Met246Val)	MTMR6 (M201V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239468	NM_004685.5(MTMR6):c.709A>G (p.Met237Val)	MTMR6 (M101V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2257902	NM_004685.5(MTMR6):c.451C>T (p.Arg151Trp)	MTMR6 (R133W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296717	NM_004685.5(MTMR6):c.428A>G (p.His143Arg)	MTMR6 (H143R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296714	NM_004685.5(MTMR6):c.362G>A (p.Arg121Gln)	MTMR6 (R121Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296709	NM_004685.5(MTMR6):c.290A>T (p.Gln97Leu)	MTMR6 (Q97L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400693	NM_004685.5(MTMR6):c.261T>G (p.Asp87Glu)	MTMR6 (D87E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216484	NM_004685.5(MTMR6):c.241A>G (p.Ile81Val)	MTMR6 (I81V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216503	NM_004685.5(MTMR6):c.65A>G (p.Asn22Ser)	MTMR6 (N22S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216452	NM_004685.5(MTMR6):c.14G>A (p.Arg5Gln)	MTMR6 (R5Q)	Single nucleotide variant (missense variant +2 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 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 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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
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 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 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
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: 66