Related gene-specific medical variations for Gene (Select 153657) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3261844	NM_018321.4(BRIX1):c.278A>C (p.Lys93Thr)	BRIX1, TTC23L (K93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261843	NM_018321.4(BRIX1):c.652C>T (p.Arg218Trp)	BRIX1, LOC126807355 +1 more (R218W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261842	NM_018321.4(BRIX1):c.221C>G (p.Thr74Arg)	BRIX1, TTC23L (T74R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261841	NM_018321.4(BRIX1):c.14A>G (p.Lys5Arg)	BRIX1, TTC23L (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261840	NM_018321.4(BRIX1):c.604G>A (p.Val202Met)	BRIX1, LOC126807355 +1 more (V202M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261838	NM_018321.4(BRIX1):c.622T>C (p.Phe208Leu)	BRIX1, LOC126807355 +1 more (F208L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261837	NM_018321.4(BRIX1):c.326T>C (p.Met109Thr)	BRIX1, TTC23L (M109T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184177	NM_144725.4(TTC23L):c.792A>G (p.Ile264Met)	LOC126807354, TTC23L (I264M +1 more)	Single nucleotide variant (missense variant +1 more)	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 3135088	NM_018321.4(BRIX1):c.914A>G (p.Asp305Gly)	BRIX1, TTC23L (D305G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135087	NM_018321.4(BRIX1):c.838A>G (p.Lys280Glu)	BRIX1, TTC23L (K280E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135085	NM_018321.4(BRIX1):c.661C>G (p.Gln221Glu)	BRIX1, LOC126807355 +1 more (Q221E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135084	NM_018321.4(BRIX1):c.637A>G (p.Asn213Asp)	BRIX1, LOC126807355 +1 more (N213D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135083	NM_018321.4(BRIX1):c.611A>G (p.His204Arg)	BRIX1, LOC126807355 +1 more (H204R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135082	NM_018321.4(BRIX1):c.598C>T (p.Pro200Ser)	BRIX1, LOC126807355 +1 more (P200S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135081	NM_018321.4(BRIX1):c.490C>A (p.Pro164Thr)	BRIX1, LOC126807355 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	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 +1 more	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 2588701	NM_144725.4(TTC23L):c.791T>C (p.Ile264Thr)	LOC126807354, TTC23L (I264T +1 more)	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 2487499	NM_018321.4(BRIX1):c.283G>T (p.Asp95Tyr)	BRIX1, TTC23L (D95Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484626	NM_018321.4(BRIX1):c.566T>G (p.Phe189Cys)	BRIX1, LOC126807355 +1 more (F189C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481402	NM_144725.4(TTC23L):c.692T>C (p.Leu231Pro)	LOC126807354, TTC23L (L231P +1 more)	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 2392932	NM_018321.4(BRIX1):c.221C>T (p.Thr74Ile)	BRIX1, TTC23L (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2386170	NM_018321.4(BRIX1):c.32G>A (p.Gly11Asp)	BRIX1, TTC23L (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378143	NM_018321.4(BRIX1):c.79G>A (p.Glu27Lys)	BRIX1, TTC23L (E27K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327503	NM_018321.4(BRIX1):c.634G>A (p.Asp212Asn)	BRIX1, LOC126807355 +1 more (D212N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2313450	NM_018321.4(BRIX1):c.107C>A (p.Ala36Glu)	BRIX1, TTC23L (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300344	NM_144725.4(TTC23L):c.816C>A (p.Asn272Lys)	LOC126807354, TTC23L (N281K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287085	NM_018321.4(BRIX1):c.809G>T (p.Arg270Ile)	BRIX1, TTC23L (R270I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257645	NM_018321.4(BRIX1):c.359C>T (p.Ala120Val)	BRIX1, TTC23L (A120V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248723	NM_144725.4(TTC23L):c.776A>G (p.Glu259Gly)	LOC126807354, TTC23L (E259G +1 more)	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 2226393	NM_018321.4(BRIX1):c.970G>C (p.Glu324Gln)	BRIX1, TTC23L (E324Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217600	NM_018321.4(BRIX1):c.746G>A (p.Gly249Glu)	BRIX1, TTC23L (G249E)	Single nucleotide variant (non-coding transcript 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 2206599	NM_018321.4(BRIX1):c.479A>G (p.Lys160Arg)	BRIX1, LOC126807355 +1 more (K160R)	Single nucleotide variant (non-coding transcript 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 62