Related gene-specific medical variations for Gene (Select 23042) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315442	NM_018427.5(RRN3):c.1449G>C (p.Leu483Phe)	PDXDC1, RRN3 (L453F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315441	NM_018427.5(RRN3):c.1174G>T (p.Asp392Tyr)	PDXDC1, RRN3 (D362Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315440	NM_018427.5(RRN3):c.680A>T (p.His227Leu)	PDXDC1, RRN3 (H227L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315439	NM_018427.5(RRN3):c.655G>A (p.Glu219Lys)	PDXDC1, RRN3 (E189K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315438	NM_018427.5(RRN3):c.1409G>A (p.Arg470Lys)	PDXDC1, RRN3 (R440K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315437	NM_018427.5(RRN3):c.1913T>A (p.Val638Glu)	PDXDC1, RRN3 (V638E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315436	NM_018427.5(RRN3):c.736C>G (p.Leu246Val)	PDXDC1, RRN3 (L246V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315435	NM_018427.5(RRN3):c.1036G>T (p.Asp346Tyr)	PDXDC1, RRN3 (D346Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301236	NM_173474.4(NTAN1):c.479G>T (p.Cys160Phe)	NTAN1, PDXDC1 (C55F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202542	NM_173474.4(NTAN1):c.812C>A (p.Thr271Asn)	NTAN1, PDXDC1 (T166N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202541	NM_173474.4(NTAN1):c.610C>A (p.Arg204Ser)	NTAN1, PDXDC1 (R204S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202540	NM_173474.4(NTAN1):c.500G>A (p.Arg167Gln)	NTAN1, PDXDC1 (R62Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202539	NM_173474.4(NTAN1):c.352T>C (p.Cys118Arg)	NTAN1, PDXDC1 (C118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202538	NM_173474.4(NTAN1):c.283G>A (p.Gly95Arg)	NTAN1, PDXDC1 (G95R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156474	NM_018427.5(RRN3):c.805A>G (p.Thr269Ala)	PDXDC1, RRN3 (T239A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156473	NM_018427.5(RRN3):c.40G>A (p.Ala14Thr)	PDXDC1, RRN3 (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156472	NM_018427.5(RRN3):c.400G>A (p.Gly134Ser)	PDXDC1, RRN3 (G134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156471	NM_018427.5(RRN3):c.311A>G (p.Lys104Arg)	PDXDC1, RRN3 (K104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156470	NM_018427.5(RRN3):c.22A>G (p.Thr8Ala)	PDXDC1, RRN3 (T8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156469	NM_018427.5(RRN3):c.1855G>A (p.Val619Met)	PDXDC1, RRN3 (V619M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156467	NM_018427.5(RRN3):c.1753A>C (p.Ser585Arg)	PDXDC1, RRN3 (S555R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156466	NM_018427.5(RRN3):c.172G>C (p.Glu58Gln)	PDXDC1, RRN3 (E58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156465	NM_018427.5(RRN3):c.170C>G (p.Thr57Arg)	PDXDC1, RRN3 (T57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156464	NM_018427.5(RRN3):c.1490G>C (p.Ser497Thr)	RRN3, PDXDC1 (S467T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156463	NM_018427.5(RRN3):c.144A>C (p.Lys48Asn)	PDXDC1, RRN3 (K48N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646248	NM_018427.5(RRN3):c.1854C>T (p.Thr618=)	RRN3, PDXDC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621992	NM_018427.5(RRN3):c.203C>G (p.Thr68Arg)	PDXDC1, RRN3 (T68R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621315	NM_018427.5(RRN3):c.1660A>G (p.Asn554Asp)	PDXDC1, RRN3 (N524D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595740	NM_018427.5(RRN3):c.1429G>A (p.Gly477Arg)	PDXDC1, RRN3 (G477R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558542	NM_018427.5(RRN3):c.698G>C (p.Ser233Thr)	PDXDC1, RRN3 (S203T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555854	NM_173474.4(NTAN1):c.232G>A (p.Val78Met)	NTAN1, PDXDC1 (V78M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539913	NM_018427.5(RRN3):c.1608G>T (p.Met536Ile)	PDXDC1, RRN3 (M506I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529048	NM_018427.5(RRN3):c.589G>A (p.Val197Ile)	PDXDC1, RRN3 (V197I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528177	NM_173474.4(NTAN1):c.811A>G (p.Thr271Ala)	NTAN1, PDXDC1 (T166A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496281	NM_018427.5(RRN3):c.1490G>A (p.Ser497Asn)	PDXDC1, RRN3 (S467N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492817	NM_018427.5(RRN3):c.1642T>C (p.Ser548Pro)	PDXDC1, RRN3 (S548P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461682	NM_018427.5(RRN3):c.91A>G (p.Ile31Val)	PDXDC1, RRN3 (I31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403516	NM_173474.4(NTAN1):c.767C>T (p.Ser256Leu)	NTAN1, PDXDC1 (S256L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380875	NM_018427.5(RRN3):c.622C>G (p.Leu208Val)	PDXDC1, RRN3 (L178V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378209	NM_173474.4(NTAN1):c.326T>C (p.Ile109Thr)	NTAN1, PDXDC1 (I4T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366762	NM_173474.4(NTAN1):c.677G>A (p.Arg226His)	NTAN1, PDXDC1 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361195	NM_018427.5(RRN3):c.5C>T (p.Ala2Val)	PDXDC1, RRN3 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354381	NM_018427.5(RRN3):c.1405T>G (p.Phe469Val)	PDXDC1, RRN3 (F439V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353728	NM_173474.4(NTAN1):c.659C>T (p.Ala220Val)	NTAN1, PDXDC1 (A220V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338915	NM_018427.5(RRN3):c.328A>G (p.Ile110Val)	PDXDC1, RRN3 (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331349	NM_173474.4(NTAN1):c.905G>C (p.Trp302Ser)	NTAN1, PDXDC1 (W197S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316364	NM_018427.5(RRN3):c.676G>A (p.Val226Ile)	PDXDC1, RRN3 (V196I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303757	NM_018427.5(RRN3):c.535C>A (p.Leu179Ile)	PDXDC1, RRN3 (L179I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299109	NM_018427.5(RRN3):c.1921C>T (p.Pro641Ser)	PDXDC1, RRN3 (P641S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294687	NM_018427.5(RRN3):c.1634G>T (p.Gly545Val)	PDXDC1, RRN3 (G515V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288325	NM_173474.4(NTAN1):c.638C>G (p.Pro213Arg)	NTAN1, PDXDC1 (P108R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280972	NM_018427.5(RRN3):c.910G>T (p.Asp304Tyr)	PDXDC1, RRN3 (D274Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277973	NM_018427.5(RRN3):c.530A>G (p.Asp177Gly)	RRN3, PDXDC1 (D177G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260312	NM_173474.4(NTAN1):c.498C>G (p.Asp166Glu)	NTAN1, PDXDC1 (D61E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257612	NM_018427.5(RRN3):c.1517T>G (p.Leu506Arg)	PDXDC1, RRN3 (L476R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249413	NM_018427.5(RRN3):c.559C>T (p.His187Tyr)	PDXDC1, RRN3 (H157Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211462	NM_018427.5(RRN3):c.406C>G (p.Leu136Val)	PDXDC1, RRN3 (L106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1690355	NM_173474.4(NTAN1):c.150G>T (p.Gln50His)	NTAN1, PDXDC1 (Q50H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775037	NM_018427.5(RRN3):c.238G>A (p.Asp80Asn)	RRN3, PDXDC1 (D80N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 728888	NM_018427.5(RRN3):c.63T>C (p.Val21=)	PDXDC1, RRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 60