Related gene-specific medical variations for Gene (Select 392636) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062991	GRCh37/hg19 7p21.2(chr7:15555411-15586378)x1	AGMO	Copy number loss	not specified	GUncertain significance
Select item 2690855	NM_001004320.2(AGMO):c.970G>T (p.Glu324Ter)	AGMO (E324*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1701700	NM_001004320.2(AGMO):c.621C>G (p.Asn207Lys)	AGMO (N207K)	Single nucleotide variant (missense variant)	AGMO-related Neurodevelopmental disorder	GUncertain significance
Select item 1701699	NM_001004320.2(AGMO):c.1098_1100del (p.Leu367del)	AGMO (L367del)	Deletion (inframe_deletion)	AGMO-related Neurodevelopmental disorder	GUncertain significance
Select item 1341726	NM_001004320.2(AGMO):c.957_957+18del	AGMO	Deletion (splice donor variant)	See cases	GLikely pathogenic
Select item 1340010	GRCh37/hg19 7p21.2(chr7:15416763-15488735)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 980246	GRCh37/hg19 7p21.2(chr7:15304967-15416687)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 814940	GRCh37/hg19 7p21.2(chr7:15581329-15638572)x1	AGMO	Copy number loss	not provided	GLikely benign
Select item 814939	GRCh37/hg19 7p21.2(chr7:15354728-15575399)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 814938	GRCh37/hg19 7p21.2(chr7:15286394-15487637)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 689126	GRCh37/hg19 7p21.2(chr7:15117819-15263613)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 688756	GRCh37/hg19 7p21.2(chr7:15217244-15275223)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 688554	GRCh37/hg19 7p21.2(chr7:15397982-15563136)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 687712	GRCh37/hg19 7p21.2(chr7:15581329-15614182)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 687636	GRCh37/hg19 7p21.2(chr7:15581329-15626825)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 686900	GRCh37/hg19 7p21.2(chr7:15581329-15626825)x3	AGMO	Copy number gain	not provided	GUncertain significance
Select item 686766	GRCh37/hg19 7p21.2(chr7:15581329-15614199)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 686257	GRCh37/hg19 7p21.2(chr7:15581329-15621927)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 686116	GRCh37/hg19 7p21.2(chr7:15581329-15626825)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 685043	GRCh37/hg19 7p21.2(chr7:15118760-15263613)x1	AGMO	Copy number loss	not provided	GUncertain significance
Select item 443912	GRCh37/hg19 7p21.2(chr7:14993073-15253982)x1	AGMO	Copy number loss	See cases	GLikely benign
Select item 393535	GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3	AGMO	Copy number gain	VATER association	GLikely benign

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Links from Gene

Items: 22