ClinVar for MedGen (Select 154237) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 1328431	NM_001080512.3(BICC1):c.387+1G>C	BICC1	Single nucleotide variant (splice donor variant)	Renal agenesis	GLikely pathogenic
Select item 1328427	NM_025074.7(FRAS1):c.7747C>T (p.Gln2583Ter)	FRAS1 (Q2583*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic
Select item 1328421	NM_025074.7(FRAS1):c.1176C>G (p.Tyr392Ter)	FRAS1 (Y392*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic
Select item 1328410	NM_025074.7(FRAS1):c.879C>G (p.Tyr293Ter)	FRAS1 (Y293*)	Single nucleotide variant (nonsense)	Renal agenesis	GPathogenic
Select item 1328409	NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro)	GREB1L (R1057P)	Single nucleotide variant (missense variant)	Renal agenesis +1 more	GUncertain significance
Select item 1328408	NM_001142966.3(GREB1L):c.1720+5G>A	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	Renal agenesis +1 more	GUncertain significance
Select item 1328407	NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro)	GREB1L (L814P)	Single nucleotide variant (missense variant)	Renal agenesis +1 more	GUncertain significance
Select item 1252040	NM_016126.4(IFT25):c.183dup (p.Leu62fs)	IFT25 (L19fs +1 more)	Duplication (frameshift variant +2 more)	Renal agenesis	GUncertain significance
Select item 978642	NM_001384125.1(BLTP1):c.14113+11G>C	BLTP1	Single nucleotide variant (intron variant)	Right aortic arch +2 more	GUncertain significance
Select item 978641	NM_001384125.1(BLTP1):c.9153del (p.Val3052fs)	BLTP1 (V3052fs)	Deletion (frameshift variant)	Right aortic arch +2 more	GPathogenic
Select item 813842	GRCh37/hg19 6q14.3(chr6:85220808-85517846)x3	TBX18	Copy number gain	Renal agenesis +1 more	GUncertain significance
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +20 more	GPathogenic
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	Pectus excavatum +28 more	GConflicting classifications of pathogenicity