ClinVar for Gene (Select 9984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177081	NM_005131.3(THOC1):c.372A>C (p.Lys124Asn)	THOC1 (K124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177080	NM_005131.3(THOC1):c.1960G>A (p.Glu654Lys)	THOC1 (E654K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177079	NM_005131.3(THOC1):c.1751A>G (p.Gln584Arg)	THOC1 (Q584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177078	NM_005131.3(THOC1):c.174T>G (p.Ile58Met)	THOC1 (I58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177077	NM_005131.3(THOC1):c.1690C>T (p.Arg564Trp)	THOC1 (R564W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177075	NM_005131.3(THOC1):c.1148A>G (p.Asn383Ser)	THOC1 (N383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684861	GRCh37/hg19 18p11.32(chr18:136227-535230)x3	COLEC12, THOC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2611250	NM_005131.3(THOC1):c.673A>G (p.Thr225Ala)	THOC1 (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605189	NM_005131.3(THOC1):c.860A>G (p.Glu287Gly)	THOC1 (E287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593237	NM_005131.3(THOC1):c.1150A>G (p.Thr384Ala)	THOC1 (T384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2570134	NM_005131.3(THOC1):c.1234A>G (p.Ile412Val)	THOC1 (I412V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466836	NM_005131.3(THOC1):c.1010A>G (p.Lys337Arg)	THOC1 (K337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463820	NM_005131.3(THOC1):c.250A>G (p.Thr84Ala)	THOC1 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2443955	NM_005131.3(THOC1):c.547C>G (p.Leu183Val)	THOC1	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 86	GPathogenic
Select item 2391567	NM_005131.3(THOC1):c.49T>G (p.Phe17Val)	LOC130062072, THOC1 (F17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335658	NM_005131.3(THOC1):c.1574T>C (p.Met525Thr)	THOC1 (M525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328390	NM_005131.3(THOC1):c.25A>C (p.Ser9Arg)	LOC130062072, THOC1 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328273	NM_005131.3(THOC1):c.1394A>G (p.Glu465Gly)	THOC1 (E465G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292976	NM_005131.3(THOC1):c.1807G>A (p.Glu603Lys)	THOC1 (E603K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286614	NM_005131.3(THOC1):c.332C>T (p.Thr111Ile)	THOC1 (T111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809414	GRCh37/hg19 18p11.32(chr18:220341-556146)x3	COLEC12, THOC1	Copy number gain	not provided	GUncertain significance
Select item 1808401	GRCh37/hg19 18p11.32(chr18:136227-2626840)x1	ADCYAP1, CETN1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	ADCYAP1, AKAIN1 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1340357	GRCh37/hg19 18p11.32(chr18:136227-2694169)x1	ADCYAP1, CETN1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic
Select item 983167	GRCh37/hg19 18p11.32(chr18:10001-1322185)	TYMSOS, TYMS +8 more	Copy number gain	See cases	GUncertain significance
Select item 979685	GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1	MYOM1, USP14 +17 more	Copy number loss	not provided	GPathogenic
Select item 979534	GRCh37/hg19 18p11.32(chr18:136226-2243194)x1	TYMS, ADCYAP1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979530	GRCh37/hg19 18p11.32(chr18:1-2243194)x3	TYMSOS, COLEC12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 979529	GRCh37/hg19 18p11.32(chr18:136226-2626840)x1	NDC80, THOC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 979526	GRCh37/hg19 18p11.32(chr18:224862-304068)x1	THOC1	Copy number loss	not provided	GLikely benign
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815966	GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1	METTL4, MYL12B +22 more	Copy number loss	not provided	GPathogenic
Select item 815964	GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1	MYOM1, SMCHD1 +18 more	Copy number loss	not provided	GPathogenic
Select item 815959	GRCh37/hg19 18p11.32(chr18:136226-1552876)x1	ADCYAP1, CETN1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687813	GRCh37/hg19 18p11.32(chr18:136226-1197643)x3	ADCYAP1, CETN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687199	GRCh37/hg19 18p11.32(chr18:136226-475796)x1	COLEC12, THOC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635889	Single allele	ADCYAP1, CETN1 +8 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625805	GRCh37/hg19 18p11.32(chr18:13034-547239)	COLEC12, THOC1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 564557	GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1	LRRC30, USP14 +38 more	Copy number loss	not provided	GPathogenic
Select item 564555	GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1	TMEM200C, COLEC12 +28 more	Copy number loss	not provided	GPathogenic
Select item 564552	GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1	LPIN2, SMCHD1 +19 more	Copy number loss	not provided	GPathogenic
Select item 564508	GRCh37/hg19 18p11.32(chr18:136226-594726)x1	USP14, THOC1 +2 more	Copy number loss	not provided	GLikely benign
Select item 560038	Single allele	COLEC12, LOC130062072 +3 more	Deletion	not provided	GLikely benign
Select item 545223	NC_000018.10:g.(?_10000)_(1543845_?)del	ADCYAP1, CETN1 +36 more	Deletion	Autism	GLikely pathogenic
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 443661	GRCh37/hg19 18p11.32(chr18:136226-2737002)x1	ADCYAP1, CETN1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 443038	GRCh37/hg19 18p11.32(chr18:136226-2296833)x1	ADCYAP1, CETN1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 442789	GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 442720	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442285	GRCh37/hg19 18p11.32(chr18:136226-1742272)x1	ADCYAP1, CETN1 +8 more	Copy number loss	See cases	GPathogenic
Select item 441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 441886	GRCh37/hg19 18p11.32-11.31(chr18:136226-5323941)x1	ADCYAP1, AKAIN1 +21 more	Copy number loss	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 441648	GRCh37/hg19 18p11.32(chr18:136226-718854)x3	CETN1, CLUL1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253646	GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1	LAMA1, CETN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic

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