ClinVar for MedGen (Select 767392) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066034	NC_000007.14:g.26544156_26548212del		Deletion	Autosomal recessive osteopetrosis 8	GLikely pathogenic
Select item 2663932	NM_013322.3(SNX10):c.302del (p.Phe101fs)	SNX10 (F101fs +3 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 8	GLikely pathogenic
Select item 1679112	NC_000007.14:g.26263639_26335651delinsCA	LOC129998145, LOC129998146 +2 more	Indel	Autosomal recessive osteopetrosis 8	GUncertain significance
Select item 1243137	NM_013322.3(SNX10):c.24+36T>A	SNX10	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 8 +1 more	GBenign
Select item 804401	NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)	SNX10 (R77* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive osteopetrosis 8 +1 more	GPathogenic/Likely pathogenic
Select item 734655	NM_013322.3(SNX10):c.212+4A>T	SNX10	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 635163	NM_013322.3(SNX10):c.284G>A (p.Arg95His)	SNX10 (R95H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 139565	NM_013322.3(SNX10):c.46C>T (p.Arg16Ter)	SNX10 (R16* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 40050	NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)	SNX10 (R51Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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