"Revvity Omics, Revvity"[submitter] AND "SALL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418466	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	SALL1 (C1042fs +1 more)	Deletion (frameshift variant)	Townes syndrome +2 more	GPathogenic
Select item 2689906	NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)	SALL1 (S1082L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 459259	NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)	SALL1 (L1067F +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2072565	NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)	SALL1 (R660C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 7428	NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	SALL1 (R276* +1 more)	Single nucleotide variant (nonsense)	Townes syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2077958	NM_002968.3(SALL1):c.389C>T (p.Pro130Leu)	SALL1 (P130L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 2435646	NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)	SALL1 (R35L)	Single nucleotide variant (5 prime UTR variant +1 more)	Townes-Brocks syndrome 1	GUncertain significance

ClinVar