SEM1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 2635872	NR_163948.1(SEM1):n.167G>C	C7orf76, SEM1	Single nucleotide variant (non-coding transcript variant)	SEM1-related disorder	GUncertain significance
Select item 738972	NM_006304.2(SEM1):c.183G>A (p.Glu61=)	SEM1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3235448	NM_006304.2(SEM1):c.89T>C (p.Leu30Ser)	SEM1 (L30S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3235447	NM_006304.2(SEM1):c.71C>T (p.Ala24Val)	LOC129998834, SEM1 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 744701	NM_006304.2(SEM1):c.33T>A (p.Gly11=)	LOC129998834, SEM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 2427215	NC_000007.13:g.(?_96318236)_(97493828_?)dup	ASNS, DLX5 +4 more	Duplication	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1807807	GRCh37/hg19 7q21.3(chr7:96264152-96860892)x1	DLX5, DLX6 +2 more	Copy number loss	not provided	GPathogenic
Select item 1807695	GRCh37/hg19 7q21.3(chr7:95258682-96465856)x1	C7orf76, DYNC1I1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1459945	NC_000007.13:g.(?_95434042)_(96747209_?)del	C7orf76, DLX5 +5 more	Deletion	not provided	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 974791	GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1	C7orf76, DLX5 +4 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395018	GRCh37/hg19 7q21.3(chr7:96066104-97428089)x3	C7orf76, DLX5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 25