ClinVar for MedGen (Select 5527) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 991065	NM_000352.6(ABCC8):c.414C>T (p.Ala138=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 881001	NM_000486.6(AQP2):c.735T>C (p.Asp245=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 753431	NM_000091.5(COL4A3):c.2712G>A (p.Gly904=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 357445	NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	PKHD1 (R669H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 283485	NM_022042.4(SLC26A1):c.*877C>T	SLC26A1, IDUA	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92393	NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	BLM (P868L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign

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