"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RNF17"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643694	NM_031277.3(RNF17):c.1883C>T (p.Pro628Leu)	RNF17 (P628L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643695	NM_031277.3(RNF17):c.3258A>G (p.Lys1086=)	RNF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643696	NM_031277.3(RNF17):c.3558A>G (p.Thr1186=)	RNF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311590	NM_018451.5(CENPJ):c.594_595dup	CENPJ, RNF17	Duplication (3 prime UTR variant +1 more)	Seckel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311591	NM_018451.5(CENPJ):c.*570T>C	CENPJ, RNF17	Single nucleotide variant (3 prime UTR variant +1 more)	Microcephaly 6, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 311606	NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 6, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 158214	NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)	CENPJ, RNF17 (T1307I)	Single nucleotide variant (missense variant +1 more)	CENPJ-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2643697	NM_018451.5(CENPJ):c.3591G>C (p.Val1197=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672535	NM_018451.5(CENPJ):c.3564C>T (p.Ile1188=)	CENPJ, RNF17	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643698	NM_018451.5(CENPJ):c.3450G>A (p.Gln1150=)	CENPJ, RNF17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 806994	NM_018451.5(CENPJ):c.3332CTC[1] (p.Pro1112del)	CENPJ, RNF17 (P1112del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 21664	NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)	RNF17, CENPJ (N1102S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity