TTC23L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 2476070	NM_144725.4(TTC23L):c.44T>A (p.Ile15Asn)	TTC23L (I15N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492206	NM_144725.4(TTC23L):c.51G>C (p.Trp17Cys)	TTC23L (W17C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306101	NM_144725.4(TTC23L):c.218C>A (p.Ser73Tyr)	TTC23L (S73Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247254	NM_144725.4(TTC23L):c.218C>T (p.Ser73Phe)	TTC23L (S73F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329810	NM_144725.4(TTC23L):c.247G>A (p.Glu83Lys)	TTC23L (E92K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455246	NM_144725.4(TTC23L):c.287G>A (p.Cys96Tyr)	TTC23L (C105Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184175	NM_144725.4(TTC23L):c.302G>A (p.Arg101Gln)	TTC23L (R101Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520160	NM_144725.4(TTC23L):c.341C>T (p.Ala114Val)	TTC23L (A114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489026	NM_144725.4(TTC23L):c.365A>T (p.Tyr122Phe)	TTC23L (Y122F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530546	NM_144725.4(TTC23L):c.397A>G (p.Lys133Glu)	TTC23L (K133E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184176	NM_144725.4(TTC23L):c.640G>A (p.Asp214Asn)	TTC23L (D214N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329809	NM_144725.4(TTC23L):c.653C>G (p.Ala218Gly)	TTC23L (A218G +1 more)	Single nucleotide variant (missense 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 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 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 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 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 2492104	NM_144725.4(TTC23L):c.841G>T (p.Ala281Ser)	TTC23L (A281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184178	NM_144725.4(TTC23L):c.850G>A (p.Val284Ile)	TTC23L (V293I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345185	NM_144725.4(TTC23L):c.869C>T (p.Thr290Ile)	TTC23L (T299I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184179	NM_144725.4(TTC23L):c.889G>T (p.Ala297Ser)	TTC23L (A306S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275691	NM_144725.4(TTC23L):c.902C>A (p.Ala301Glu)	TTC23L (A301E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329811	NM_144725.4(TTC23L):c.920A>T (p.Tyr307Phe)	TTC23L (Y307F +1 more)	Single nucleotide variant (missense 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 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 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 762522	NM_002853.4(RAD1):c.783T>C (p.Asp261=)	RAD1, TTC23L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3039630	NM_002853.4(RAD1):c.666-9C>G	RAD1, TTC23L	Single nucleotide variant (intron variant)	RAD1-related disorder	GBenign
Select item 3051774	NM_002853.4(RAD1):c.666-10del	RAD1, TTC23L	Deletion (intron 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3150985	NM_002853.4(RAD1):c.273C>G (p.Asp91Glu)	RAD1, TTC23L (D91E)	Single nucleotide variant (missense variant)	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 2398464	NM_002853.4(RAD1):c.244T>C (p.Phe82Leu)	RAD1, TTC23L (F82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 3261841	NM_018321.4(BRIX1):c.14A>G (p.Lys5Arg)	BRIX1, TTC23L (K5R)	Single nucleotide variant (missense variant)	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 2313450	NM_018321.4(BRIX1):c.107C>A (p.Ala36Glu)	BRIX1, TTC23L (A36E)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1433583	NC_000005.9:g.(?_33944753)_(35089722_?)dup	AGXT2, AMACR +8 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1411822	NC_000005.9:g.(?_34007858)_(34935958_?)dup	AMACR, BRIX1 +5 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic

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