"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1498198	NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser)	NKX3-2 (G182S)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 193200	NM_001189.4(NKX3-2):c.429G>A (p.Ala143=)	NKX3-2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 284675	NM_001189.4(NKX3-2):c.351C>G (p.Gly117=)	NKX3-2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign
Select item 516400	NM_001189.4(NKX3-2):c.323C>G (p.Ala108Gly)	NKX3-2 (A108G)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 1524780	NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg)	NKX3-2 (S87R)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 770899	NM_001189.4(NKX3-2):c.235A>T (p.Thr79Ser)	NKX3-2 (T79S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 708518	NM_001189.4(NKX3-2):c.190G>C (p.Gly64Arg)	NKX3-2 (G64R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 193198	NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val)	NKX3-2 (A60V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497718	NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)	NKX3-2 (C50G)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702471	NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs)	NKX3-2 (P34fs)	Duplication (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 193199	NM_001189.4(NKX3-2):c.-10C>A	NKX3-2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign