ClinVar for Gene (Select 23281) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296812	NM_001033602.4(MTUS2):c.3158A>G (p.Glu1053Gly)	MTUS2 (E1053G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296811	NM_001033602.4(MTUS2):c.3166A>G (p.Asn1056Asp)	MTUS2 (N990D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296810	NM_001033602.4(MTUS2):c.3253G>A (p.Glu1085Lys)	MTUS2, MTUS2-AS1 (E64K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296809	NM_001033602.4(MTUS2):c.3640G>A (p.Glu1214Lys)	MTUS2 (E1148K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296808	NM_001033602.4(MTUS2):c.3619C>T (p.Arg1207Trp)	MTUS2 (R1207W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218676	NM_001033602.4(MTUS2):c.3835G>A (p.Val1279Ile)	MTUS2 (V1213I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218665	NM_001033602.4(MTUS2):c.3620G>A (p.Arg1207Gln)	MTUS2 (R1141Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218653	NM_001033602.4(MTUS2):c.3490G>A (p.Asp1164Asn)	MTUS2 (D1164N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218648	NM_001033602.4(MTUS2):c.3475C>G (p.Leu1159Val)	MTUS2 (L1158V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218637	NM_001033602.4(MTUS2):c.2932G>C (p.Ala978Pro)	MTUS2 (A978P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
Select item 2684696	GRCh37/hg19 13q12.3(chr13:29664560-30164787)x3	MTUS2, SLC7A1	Copy number gain	not provided	GUncertain significance
Select item 2643709	NM_001033602.4(MTUS2):c.3246C>T (p.Phe1082=)	MTUS2, MTUS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622111	NM_001033602.4(MTUS2):c.3582C>G (p.Asp1194Glu)	MTUS2 (D1193E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622110	NM_001033602.4(MTUS2):c.3474C>G (p.Ile1158Met)	MTUS2 (I1092M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619507	NM_001033602.4(MTUS2):c.4055G>T (p.Arg1352Leu)	MTUS2 (R1286L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598709	NM_001033602.4(MTUS2):c.3205G>A (p.Glu1069Lys)	MTUS2, MTUS2-AS1 (E1069K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592453	NM_001033602.4(MTUS2):c.3215A>G (p.Gln1072Arg)	MTUS2, MTUS2-AS1 (Q1071R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526438	NM_001033602.4(MTUS2):c.3415G>A (p.Ala1139Thr)	MTUS2 (A1138T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410101	NM_001033602.4(MTUS2):c.3971G>A (p.Arg1324Gln)	MTUS2 (R1323Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410037	NM_001033602.4(MTUS2):c.1437C>G (p.Asn479Lys)	MTUS2 (N479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403263	NM_001033602.4(MTUS2):c.3242G>T (p.Arg1081Leu)	MTUS2, MTUS2-AS1 (R1015L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391324	NM_001033602.4(MTUS2):c.3666G>T (p.Glu1222Asp)	MTUS2 (E1221D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380278	NM_001033602.4(MTUS2):c.932A>T (p.Asp311Val)	MTUS2 (D311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372425	NM_001033602.4(MTUS2):c.3511A>T (p.Met1171Leu)	MTUS2 (M1171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353886	NM_001033602.4(MTUS2):c.1172C>T (p.Ser391Phe)	MTUS2 (S391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352526	NM_001033602.4(MTUS2):c.1505T>A (p.Val502Asp)	MTUS2 (V502D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350779	NM_001033602.4(MTUS2):c.3763G>A (p.Glu1255Lys)	MTUS2 (E1255K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345458	NM_001033602.4(MTUS2):c.4039A>T (p.Thr1347Ser)	MTUS2 (T1281S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285016	NM_001033602.4(MTUS2):c.3639C>G (p.Phe1213Leu)	MTUS2 (F1147L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259301	NM_001033602.4(MTUS2):c.3341G>A (p.Arg1114His)	MTUS2, MTUS2-AS1 (R1048H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258409	NM_001033602.4(MTUS2):c.2181A>C (p.Gln727His)	MTUS2 (Q727H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250629	NM_001033602.4(MTUS2):c.1762C>T (p.Pro588Ser)	MTUS2 (P588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247545	NM_001033602.4(MTUS2):c.1820A>G (p.Asp607Gly)	MTUS2 (D607G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225543	NM_001033602.4(MTUS2):c.3380G>A (p.Arg1127Gln)	MTUS2, MTUS2-AS1 (R1061Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222065	NM_001033602.4(MTUS2):c.1795A>C (p.Lys599Gln)	MTUS2 (K599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219923	NM_001033602.4(MTUS2):c.559G>A (p.Val187Ile)	MTUS2 (V187I)	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 1527758	GRCh37/hg19 13q12.3(chr13:29136283-29976823)	MTUS2, POMP +1 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340733	GRCh37/hg19 13q12.3(chr13:29125286-29976823)x3	MTUS2, POMP +1 more	Copy number gain	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 1209857	GRCh37/hg19 13q12.2-12.3(chr13:28669064-31367407)x1	ALOX5AP, FLT1 +11 more	Copy number loss	13q12.2q12.3 deletion	GLikely pathogenic
Select item 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	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 790671	NM_001033602.4(MTUS2):c.994C>T (p.Leu332=)	MTUS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785442	NM_001033602.4(MTUS2):c.3984G>A (p.Glu1328=)	MTUS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781098	NM_001033602.4(MTUS2):c.3090C>T (p.Ala1030=)	MTUS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731245	NM_001033602.4(MTUS2):c.1220A>T (p.Asp407Val)	MTUS2 (D407V)	Single nucleotide variant (missense 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 564048	GRCh37/hg19 13q12.3(chr13:29136283-29976823)x3	SLC46A3, MTUS2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564043	GRCh37/hg19 13q12.3(chr13:29154434-29740243)x3	POMP, SLC46A3 +1 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
Select item 226233	GRCh37/hg19 13q12.3(chr13:29714684-29828112)	MTUS2	Copy number loss	Abnormal esophagus morphology	GLikely benign
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 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	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 147323	GRCh38/hg38 13q12.3(chr13:28566995-29387932)x3	LOC113939938, LOC121838573 +10 more	Copy number gain	See cases	GUncertain significance
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: 83