ClinVar for MedGen (Select 1684770) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709089	NM_001039111.3(TRIM71):c.416_423dup (p.Gly142fs)	TRIM71 (G142fs)	Duplication (frameshift variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 1696501	NM_001039111.3(TRIM71):c.2329G>A (p.Asp777Asn)	TRIM71 (D777N)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 1683521	NM_001039111.3(TRIM71):c.2129C>G (p.Ser710Cys)	TRIM71 (S710C)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 1342371	NM_001039111.3(TRIM71):c.1110G>C (p.Arg370Ser)	TRIM71 (R370S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance
Select item 1341843	NM_001039111.3(TRIM71):c.199C>A (p.Arg67Ser)	TRIM71 (R67S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 996349	NM_001039111.3(TRIM71):c.1789G>A (p.Gly597Ser)	TRIM71 (G597S)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1 +1 more	GConflicting classifications of pathogenicity
Select item 694595	NM_001039111.3(TRIM71):c.2387G>A (p.Arg796His)	TRIM71 (R796H)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GPathogenic
Select item 694594	NM_001039111.3(TRIM71):c.1823G>A (p.Arg608His)	TRIM71 (R608H)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GPathogenic
Select item 684688	NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)	TRIM71 (R817Q)	Single nucleotide variant (missense variant)	Hydrocephalus, congenital communicating, 1	GUncertain significance