ClinVar for OMIM (Select 602151) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443967	NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)	DACT1 (K593N)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443966	NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)	DACT1 (L823R +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443965	NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe)	DACT1 (L591F +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 2443964	NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys)	DACT1 (R568K +1 more)	Single nucleotide variant (missense variant +1 more)	Townes-Brocks syndrome 2	GPathogenic
Select item 739044	NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys)	DACT1 (T367K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31154	NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly)	BICC1 (E932G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31153	NM_001080512.3(BICC1):c.259C>T (p.Gln87Ter)	BICC1 (Q87*)	Single nucleotide variant (nonsense)	Renal dysplasia, cystic, susceptibility to	Grisk factor

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