ClinVar for Gene (Select 4951) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3203954	NM_006188.4(OCM2):c.44C>T (p.Ala15Val)	OCM2 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203953	NM_006188.4(OCM2):c.269C>T (p.Ala90Val)	OCM2 (A90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203951	NM_006188.4(OCM2):c.137A>T (p.Asp46Val)	OCM2 (D46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608436	NM_006188.4(OCM2):c.169G>T (p.Gly57Trp)	OCM2 (G57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599661	NM_006188.4(OCM2):c.146G>A (p.Arg49Gln)	OCM2 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460154	NM_006188.4(OCM2):c.16G>A (p.Val6Met)	OCM2 (V6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409991	NM_006188.4(OCM2):c.160G>A (p.Asp54Asn)	OCM2 (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307343	NM_006188.4(OCM2):c.202C>T (p.Leu68Phe)	OCM2 (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280187	NM_006188.4(OCM2):c.17T>G (p.Val6Gly)	OCM2 (V6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234737	NM_006188.3(OCM2):c.145C>T	OCM2	Single nucleotide variant	not specified	GUncertain significance
Select item 2217499	NM_006188.4(OCM2):c.266C>T (p.Ala89Val)	OCM2 (A89V)	Single nucleotide variant (missense variant)	not specified	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 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 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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563346	GRCh37/hg19 7q21.3(chr7:97395495-97758990)x3	OCM2, LMTK2 +1 more	Copy number gain	not provided	GUncertain significance
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 442522	GRCh37/hg19 7q21.3(chr7:97003103-97868063)x3	ASNS, BHLHA15 +4 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26