Related gene-specific medical variations for Gene (Select 4829) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656946	NM_001358410.2(GJE1):c.437A>C (p.Tyr146Ser)	GJE1, NMBR (Y146S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 814877	GRCh37/hg19 6q24.1(chr6:142315623-142413811)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 814876	GRCh37/hg19 6q24.1(chr6:142268023-142425875)x1	NMBR	Copy number loss	not provided	GLikely benign
Select item 814875	GRCh37/hg19 6q24.1(chr6:142212802-142423810)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 686527	GRCh37/hg19 6q24.1(chr6:142229411-142418636)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 394822	GRCh37/hg19 6q24.1(chr6:142336741-142438130)x3	NMBR	Copy number gain	See cases	GLikely benign

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