ESM1[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 3090452	NM_007036.5(ESM1):c.550C>T (p.Arg184Cys)	ESM1 (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208769	NM_007036.5(ESM1):c.517G>A (p.Gly173Arg)	ESM1 (G123R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550210	NM_007036.5(ESM1):c.472G>T (p.Asp158Tyr)	ESM1 (D108Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215232	NM_007036.5(ESM1):c.472G>A (p.Asp158Asn)	ESM1 (D108N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773932	NM_007036.5(ESM1):c.450G>A (p.Thr150=)	ESM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	GZMA, FST +23 more	Deletion	not provided	GPathogenic
Select item 635932	NC_000005.9:g.53180658_54552379dup	ARL15, CCNO +11 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign