100874107[Gene ID] - ClinVar

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Items: 25

	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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	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 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 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 2643709	NM_001033602.4(MTUS2):c.3246C>T (p.Phe1082=)	MTUS2, MTUS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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

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Items: 25