EMC4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	ARHGAP11A-SCG5, AVEN +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2527991	NM_016454.4(EMC4):c.8C>T (p.Ala3Val)	EMC4 (A3V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254250	NM_016454.4(EMC4):c.203G>A (p.Arg68His)	EMC4 (R68H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 285886	NM_016454.4(EMC4):c.322C>T (p.Arg108Ter)	EMC4 (R108* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3275270	NM_016454.4(EMC4):c.387G>C (p.Lys129Asn)	EMC4 (K129N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 315542	NM_001365088.1(SLC12A6):c.*3842G>T	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884491	NM_001365088.1(SLC12A6):c.*3828T>G	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 2645147	NM_001365088.1(SLC12A6):c.3821_3822del	EMC4, SLC12A6	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 315543	NM_001365088.1(SLC12A6):c.3807_3808del	SLC12A6, EMC4	Deletion (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 884492	NM_001365088.1(SLC12A6):c.*3755T>C	EMC4, SLC12A6	Single nucleotide variant (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 315544	NM_001365088.1(SLC12A6):c.*3731dup	EMC4, SLC12A6	Duplication (3 prime UTR variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 394221	GRCh37/hg19 15q14(chr15:34433403-34619178)x3	EMC4, KATNBL1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394164	GRCh37/hg19 15q14(chr15:34518135-34553079)x3	EMC4, SLC12A6	Copy number gain	See cases	GLikely benign

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Items: 39