ClinVar for MedGen (Select 1804316) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068307	NM_001080508.3(TBX18):c.571A>G (p.Ile191Val)	TBX18 (I191V)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 2441800	NM_001080508.3(TBX18):c.1045C>T (p.Arg349Ter)	TBX18 (R349*)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 2436987	NM_001080508.3(TBX18):c.14G>A (p.Arg5Gln)	TBX18 (R5Q)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 1704362	NM_001080508.3(TBX18):c.662G>A (p.Arg221His)	TBX18 (R221H)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 1177415	NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)	TBX18 (E233fs)	Insertion (frameshift variant)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 1065573	NM_001080508.3(TBX18):c.272A>C (p.Asp91Ala)	TBX18 (D91A)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GLikely benign
Select item 802247	NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg)	TBX18 (G48R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 711945	NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg)	TBX18 (G290R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 208529	NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu)	TBX18 (K163E)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 208528	NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)	TBX18 (H524Y)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 208527	NM_001080508.3(TBX18):c.1010del (p.Gly337fs)	TBX18 (G337fs)	Deletion (frameshift variant)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic