"Mendelics"[submitter] AND "SALL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288122	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	SALL1 (G1265E +1 more)	Single nucleotide variant (missense variant)	SALL1-related condition +4 more	GBenign/Likely benign
Select item 633685	NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)	SALL1 (I580V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1685082	NM_002968.3(SALL1):c.1301C>T (p.Thr434Ile)	SALL1 (T337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685083	NM_002968.3(SALL1):c.1007G>C (p.Gly336Ala)	SALL1 (G239A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 7434	NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)	SALL1 (Q323* +1 more)	Single nucleotide variant (nonsense)	Townes syndrome +1 more	GPathogenic
Select item 208167	NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)	SALL1 (P317S +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 319619	NM_002968.3(SALL1):c.220G>A (p.Val74Ile)	SALL1 (V74I)	Single nucleotide variant (5 prime UTR variant +1 more)	SALL1-related condition +2 more	GConflicting classifications of pathogenicity

ClinVar