"GeneDx"[submitter] AND "SNX10"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 1239347	NM_013322.3(SNX10):c.-23-333C>T	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227601	NM_013322.3(SNX10):c.-23-331T>C	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286408	NM_013322.3(SNX10):c.-23-214T>G	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
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 1221420	NM_013322.3(SNX10):c.24+68T>C	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268145	NM_013322.3(SNX10):c.112-354A>G	SNX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276583	NM_013322.3(SNX10):c.112-84G>A	SNX10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 453176	NM_013322.3(SNX10):c.162T>A (p.Tyr54Ter)	SNX10 (Y54* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3369965	NM_013322.3(SNX10):c.406G>T (p.Gly136Trp)	SNX10 (G133W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic