Related gene-specific medical variations for Gene (Select 64901) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685183	GRCh37/hg19 5q35.1(chr5:170417259-170695484)x1	RANBP17	Copy number loss	not provided	GUncertain significance
Select item 2455189	NM_022897.5(RANBP17):c.2987G>A (p.Arg996Gln)	LOC126807596, RANBP17 (R996Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333642	NM_022897.5(RANBP17):c.3014T>A (p.Leu1005His)	LOC126807596, RANBP17 (L1005H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690583	NM_022897.5(RANBP17):c.2997G>A (p.Trp999Ter)	LOC126807596, RANBP17 (W999*)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 1342353	NM_022897.5(RANBP17):c.1710+75929A>G	LOC110120747, RANBP17	Single nucleotide variant (intron variant)	Autism spectrum disorder	GUncertain significance
Select item 684722	NC_000005.9:g.170591818_170713790dup	RANBP17	Duplication	Congenital hydrocephalus	GUncertain significance

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