93627[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 2070160	NM_001163435.3(TBCK):c.2679A>T (p.Ile893=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812464	NM_001163435.3(TBCK):c.2676A>G (p.Gln892=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360721	NM_001163435.3(TBCK):c.2675A>C (p.Gln892Pro)	TBCK (Q853P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401765	NM_001163435.3(TBCK):c.2671C>T (p.Pro891Ser)	TBCK (P719S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1519297	NM_001163435.3(TBCK):c.2669C>T (p.Ser890Phe)	TBCK (S851F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963730	NM_001163435.3(TBCK):c.2667A>G (p.Pro889=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736370	NM_001163435.3(TBCK):c.2660C>T (p.Thr887Ile)	TBCK (T715I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1367336	NM_001163435.3(TBCK):c.2659A>C (p.Thr887Pro)	TBCK (T848P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104235	NM_001163435.3(TBCK):c.2642A>G (p.Lys881Arg)	TBCK (K818R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481375	NM_001163435.3(TBCK):c.2633A>G (p.Asn878Ser)	TBCK (N839S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109659	NM_001163435.3(TBCK):c.2617C>T (p.Leu873=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824098	NM_001163435.3(TBCK):c.2601T>C (p.Tyr867=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470654	NM_001163435.3(TBCK):c.2588T>C (p.Val863Ala)	TBCK (V863A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2977064	NM_001163435.3(TBCK):c.2577A>G (p.Ala859=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134564	NM_001163435.3(TBCK):c.2574T>G (p.Phe858Leu)	TBCK (F795L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599218	NM_001163435.3(TBCK):c.2572-5dup	TBCK	Duplication (intron variant)	not provided	GBenign
Select item 1925237	NM_001163435.3(TBCK):c.2572-5del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1540746	NM_001163435.3(TBCK):c.2572-7T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902294	NM_001163435.3(TBCK):c.2572-10T>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633035	NM_001163435.3(TBCK):c.2572-15T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670052	NM_001163435.3(TBCK):c.2571+17A>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167072	NM_001163435.3(TBCK):c.2571+9A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132010	NM_001163435.3(TBCK):c.2570A>G (p.Glu857Gly)	TBCK (E794G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508750	NM_001163435.3(TBCK):c.2542G>A (p.Val848Met)	TBCK (V785M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1662344	NM_001163435.3(TBCK):c.2541C>T (p.Ile847=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079273	NM_001163435.3(TBCK):c.2539A>C (p.Ile847Leu)	TBCK (I784L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417346	NM_001163435.3(TBCK):c.2516A>G (p.Asn839Ser)	TBCK (N667S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916195	NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)	TBCK (Q838* +3 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1671408	NM_001163435.3(TBCK):c.2511C>T (p.Leu837=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799699	NM_001163435.3(TBCK):c.2506A>G (p.Met836Val)	TBCK (M773V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2118495	NM_001163435.3(TBCK):c.2501C>T (p.Thr834Ile)	TBCK (T662I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482387	NM_001163435.3(TBCK):c.2500A>T (p.Thr834Ser)	TBCK (T795S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128146	NM_001163435.3(TBCK):c.2488C>G (p.Gln830Glu)	TBCK (Q658E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460053	NM_001163435.3(TBCK):c.2479G>T (p.Glu827Ter)	TBCK (E655* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862954	NM_001163435.3(TBCK):c.2478G>A (p.Gly826=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418707	NM_001163435.3(TBCK):c.2476G>A (p.Gly826Arg)	TBCK (G763R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633990	NM_001163435.3(TBCK):c.2472A>C (p.Ala824=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096852	NM_001163435.3(TBCK):c.2468C>A (p.Thr823Asn)	TBCK (T651N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298968	NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile)	TBCK (T651I +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1962397	NM_001163435.3(TBCK):c.2464T>A (p.Phe822Ile)	TBCK (F650I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739453	NM_001163435.3(TBCK):c.2463C>T (p.Ala821=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552187	NM_001163435.3(TBCK):c.2460T>C (p.Ala820=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599389	NM_001163435.3(TBCK):c.2446A>C (p.Ile816Leu)	TBCK (I644L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1389314	NM_001163435.3(TBCK):c.2446A>G (p.Ile816Val)	TBCK (I644V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022603	NM_001163435.3(TBCK):c.2433A>G (p.Ser811=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1029175	NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val)	TBCK (I771V +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GUncertain significance
Select item 2046669	NM_001163435.3(TBCK):c.2425C>T (p.His809Tyr)	TBCK (H770Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734374	NM_001163435.3(TBCK):c.2421T>C (p.Arg807=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500278	NM_001163435.3(TBCK):c.2420G>A (p.Arg807His)	TBCK (R768H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029174	NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro)	TBCK (R744P +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GUncertain significance
Select item 1507605	NM_001163435.3(TBCK):c.2419C>T (p.Arg807Cys)	TBCK (R744C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364483	NM_001163435.3(TBCK):c.2413T>C (p.Phe805Leu)	TBCK (F633L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088499	NM_001163435.3(TBCK):c.2412-12T>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251435	NM_001163435.3(TBCK):c.2412-155del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1243903	NM_001163435.3(TBCK):c.2411+205C>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631104	NM_001163435.3(TBCK):c.2411+20T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949130	NM_001163435.3(TBCK):c.2411+19G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946722	NM_001163435.3(TBCK):c.2411+17_2411+19del	TBCK	Deletion (intron variant)	not provided	GLikely benign
Select item 2814888	NM_001163435.3(TBCK):c.2411+17C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617466	NM_001163435.3(TBCK):c.2411+16G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902704	NM_001163435.3(TBCK):c.2411+12A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1541949	NM_001163435.3(TBCK):c.2411+12A>C	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502083	NM_001163435.3(TBCK):c.2411+6C>G	TBCK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2024040	NM_001163435.3(TBCK):c.2411+3A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1421484	NM_001163435.3(TBCK):c.2399G>A (p.Arg800Gln)	TBCK (R737Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187282	NM_001163435.3(TBCK):c.2398C>T (p.Arg800Trp)	TBCK (R761W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746989	NM_001163435.3(TBCK):c.2397C>A (p.Ile799=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1976853	NM_001163435.3(TBCK):c.2394C>T (p.Asp798=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442724	NM_001163435.3(TBCK):c.2380C>T (p.Leu794Phe)	TBCK (L622F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853313	NM_001163435.3(TBCK):c.2376A>G (p.Pro792=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029173	NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg)	TBCK (S727R +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1543643	NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)	TBCK (S618G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1973263	NM_001163435.3(TBCK):c.2348C>A (p.Pro783His)	TBCK (P720H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951107	NM_001163435.3(TBCK):c.2345C>T (p.Thr782Ile)	TBCK (T719I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120244	NM_001163435.3(TBCK):c.2336A>T (p.His779Leu)	TBCK (H740L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605284	NM_001163435.3(TBCK):c.2331A>G (p.Thr777=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117942	NM_001163435.3(TBCK):c.2330C>A (p.Thr777Lys)	TBCK (T605K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195467	NM_001163435.3(TBCK):c.2314T>A (p.Cys772Ser)	TBCK (C733S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933741	NM_001163435.3(TBCK):c.2313G>A (p.Leu771=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287211	NM_001163435.3(TBCK):c.2308G>A (p.Asp770Asn)	TBCK (D598N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870437	NM_001163435.3(TBCK):c.2306T>C (p.Ile769Thr)	TBCK (I706T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372218	NM_001163435.3(TBCK):c.2301C>A (p.Asp767Glu)	TBCK (D704E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2992357	NM_001163435.3(TBCK):c.2295A>G (p.Ala765=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617206	NM_001163435.3(TBCK):c.2286G>C (p.Arg762=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3324778	NM_001163435.3(TBCK):c.2285G>A (p.Arg762Gln)	TBCK (R699Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364304	NM_001163435.3(TBCK):c.2285G>T (p.Arg762Leu)	TBCK (R590L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033751	NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp)	TBCK (R699W +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GUncertain significance
Select item 2991001	NM_001163435.3(TBCK):c.2283A>G (p.Pro761=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087338	NM_001163435.3(TBCK):c.2274A>G (p.Glu758=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675954	NM_001163435.3(TBCK):c.2271A>G (p.Ser757=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230779	NM_001163435.3(TBCK):c.2269T>G (p.Ser757Ala)	TBCK (S585A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391096	NM_001163435.3(TBCK):c.2260G>A (p.Asp754Asn)	TBCK (D691N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634561	NM_001163435.3(TBCK):c.2253A>C (p.Pro751=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305149	NM_001163435.3(TBCK):c.2252del (p.Pro751fs)	TBCK (P579fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1625443	NM_001163435.3(TBCK):c.2236-4dup	TBCK	Duplication (intron variant)	not provided	GBenign
Select item 1597915	NM_001163435.3(TBCK):c.2236-4del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 2697268	NM_001163435.3(TBCK):c.2236-12T>A	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968112	NM_001163435.3(TBCK):c.2236-14A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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