C0795950[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195698	NM_001365088.1(SLC12A6):c.3042+8A>G	SLC12A6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 390124	NM_001365088.1(SLC12A6):c.2935-7A>G	SLC12A6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 159895	NM_001365088.1(SLC12A6):c.2934+12G>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 159894	NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=)	SLC12A6	Single nucleotide variant (synonymous variant)	Agenesis of the corpus callosum with peripheral neuropathy +2 more	GBenign
Select item 728173	NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=)	LOC126862097, SLC12A6	Single nucleotide variant (synonymous variant)	Agenesis of the corpus callosum with peripheral neuropathy +2 more	GLikely benign
Select item 315611	NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 749831	NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679493	NM_001365088.1(SLC12A6):c.1825-16T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 284439	NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)	SLC12A6 (S471T +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy +2 more	GBenign/Likely benign
Select item 159887	NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 721397	NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315623	NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)	SLC12A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 246541	NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln)	SLC12A6 (R113Q +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy +3 more	GUncertain significance
Select item 382639	NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=)	SLC12A6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1331065	NM_001365088.1(SLC12A6):c.316+6G>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 440271	NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu)	SLC12A6 (A74E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128786	NM_017882.3(CLN6):c.486+8C>T	CLN6	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity