Related gene-specific medical variations for Gene (Select 6299) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360235	NM_002968.3(SALL1):c.3402C>G (p.His1134Gln)	SALL1 (H1037Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360095	NM_002968.3(SALL1):c.2814C>G (p.Phe938Leu)	SALL1 (F841L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236579	NM_002968.3(SALL1):c.731_737delinsAGAA (p.Leu244_Leu246delinsGlnLys)	SALL1	Indel (inframe_indel)	Townes-Brocks syndrome 1	GUncertain significance
Select item 3062088	NM_002968.3(SALL1):c.953del (p.Pro318fs)	SALL1 (P221fs +1 more)	Deletion (frameshift variant)	Townes-Brocks syndrome 1	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 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
Select item 1676474	NM_002968.3(SALL1):c.1441A>G (p.Ile481Val)	SALL1 (I384V +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1344617	NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser)	SALL1 (G459S +1 more)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1184321	NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)	SALL1 (G142R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 980678	GRCh37/hg19 16q12.1(chr16:51025932-51360215)x3	SALL1	Copy number gain	not provided	GUncertain significance
Select item 932004	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)	SALL1 (I1166V +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 591968	NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser)	SALL1 (L970S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591471	NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del)	SALL1	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 319612	NM_002968.3(SALL1):c.676G>A (p.Val226Ile)	SALL1 (V226I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 258867	NM_002968.3(SALL1):c.2967C>T (p.Leu989=)	SALL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign