ClinVar for MedGen (Select 1634931) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694474	NM_015693.4(INTU):c.2527C>T (p.Arg843Cys)	INTU (R843C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1694472	NM_015693.4(INTU):c.2358_2359dup (p.Asn787fs)	INTU, LOC123480930 (N787fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 20 with polydactyly +1 more	GPathogenic
Select item 1644449	NM_015693.4(INTU):c.683-16G>C	INTU	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 20 with polydactyly +2 more	GBenign/Likely benign
Select item 1341890	NM_015693.4(INTU):c.1305dup (p.Asn436Ter)	INTU, LOC126807151 (N436*)	Duplication (nonsense)	Orofaciodigital syndrome 17 +1 more	GLikely pathogenic
Select item 1249414	NM_015693.4(INTU):c.471A>G (p.Arg157=)	INTU	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 17 +3 more	GBenign
Select item 1179813	NM_015693.4(INTU):c.813G>A (p.Thr271=)	INTU	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 780934	NM_015693.4(INTU):c.1450-9T>G	INTU	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 20 with polydactyly +2 more	GBenign/Likely benign
Select item 504483	NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	INTU (Q276*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 20 with polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 504482	NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	INTU (E500A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 20 with polydactyly	GLikely pathogenic
Select item 504481	NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	INTU (E355*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 20 with polydactyly	GLikely pathogenic