Related gene-specific medical variations for Gene (Select 5810) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354525	NM_002853.4(RAD1):c.353C>G (p.Pro118Arg)	RAD1, TTC23L (P118R)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 3348855	NM_002853.4(RAD1):c.46A>T (p.Ser16Cys)	RAD1, TTC23L (S16C)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 3312261	NM_002853.4(RAD1):c.677C>T (p.Ser226Phe)	RAD1, TTC23L (S226F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312260	NM_002853.4(RAD1):c.260C>A (p.Thr87Asn)	RAD1, TTC23L (T87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150991	NM_002853.4(RAD1):c.7C>T (p.Leu3Phe)	RAD1, TTC23L (L3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150988	NM_002853.4(RAD1):c.730C>T (p.Arg244Trp)	RAD1, TTC23L (R244W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150987	NM_002853.4(RAD1):c.487C>G (p.Leu163Val)	RAD1, TTC23L (L163V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150985	NM_002853.4(RAD1):c.273C>G (p.Asp91Glu)	RAD1, TTC23L (D91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057114	NM_002853.4(RAD1):c.842A>G (p.Glu281Gly)	RAD1, TTC23L (E281G)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3053113	NM_002853.4(RAD1):c.199-4A>G	RAD1, TTC23L	Single nucleotide variant (intron variant)	RAD1-related disorder	GLikely benign
Select item 3051774	NM_002853.4(RAD1):c.666-10del	RAD1, TTC23L	Deletion (intron variant)	RAD1-related disorder	GLikely benign
Select item 3042313	NM_002853.4(RAD1):c.519G>A (p.Thr173=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant +1 more)	RAD1-related disorder	GLikely benign
Select item 3042033	NM_002853.4(RAD1):c.311C>G (p.Thr104Ser)	RAD1, TTC23L (T104S)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3041897	NM_002853.4(RAD1):c.279A>G (p.Leu93=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant)	RAD1-related disorder	GLikely benign
Select item 3039861	NM_002853.4(RAD1):c.608A>G (p.Tyr203Cys)	RAD1, TTC23L (Y203C)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GLikely benign
Select item 3039630	NM_002853.4(RAD1):c.666-9C>G	RAD1, TTC23L	Single nucleotide variant (intron variant)	RAD1-related disorder	GBenign
Select item 3037412	NM_002853.4(RAD1):c.341G>A (p.Gly114Asp)	RAD1, TTC23L (G114D)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GBenign
Select item 3032386	NM_002853.4(RAD1):c.799G>C (p.Val267Leu)	RAD1, TTC23L (V267L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2633857	NM_002853.4(RAD1):c.326G>A (p.Arg109Gln)	RAD1, TTC23L (R109Q)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 2633652	NM_002853.4(RAD1):c.325C>T (p.Arg109Ter)	RAD1, TTC23L (R109*)	Single nucleotide variant (nonsense +1 more)	RAD1-related disorder	GUncertain significance
Select item 2631971	NM_002853.4(RAD1):c.467T>C (p.Ile156Thr)	RAD1, TTC23L (I156T)	Single nucleotide variant (missense variant +1 more)	RAD1-related disorder	GUncertain significance
Select item 2615107	NM_002853.4(RAD1):c.403A>C (p.Asn135His)	RAD1, TTC23L (N135H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532748	NM_002853.4(RAD1):c.491G>A (p.Arg164His)	RAD1, TTC23L (R164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517197	NM_002853.4(RAD1):c.607T>G (p.Tyr203Asp)	RAD1, TTC23L (Y203D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489740	NM_002853.4(RAD1):c.518C>G (p.Thr173Arg)	RAD1, TTC23L (T173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405690	NM_002853.4(RAD1):c.551A>T (p.Asp184Val)	RAD1, TTC23L (D184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402724	NM_002853.4(RAD1):c.790A>G (p.Ile264Val)	RAD1, TTC23L (I264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398464	NM_002853.4(RAD1):c.244T>C (p.Phe82Leu)	RAD1, TTC23L (F82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393221	NM_002853.4(RAD1):c.149A>G (p.Lys50Arg)	RAD1, TTC23L (K50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244909	NM_002853.4(RAD1):c.374A>G (p.Glu125Gly)	RAD1, TTC23L (E125G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236327	NM_002853.4(RAD1):c.422A>G (p.Glu141Gly)	RAD1, TTC23L (E141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214979	NM_002853.4(RAD1):c.521G>A (p.Ser174Asn)	RAD1, TTC23L (S174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762522	NM_002853.4(RAD1):c.783T>C (p.Asp261=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 33