ClinVar for Gene (Select 9878) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181371	NM_014828.4(TOX4):c.476G>C (p.Gly159Ala)	TOX4 (G136A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181370	NM_014828.4(TOX4):c.335T>C (p.Ile112Thr)	TOX4 (I112T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181369	NM_014828.4(TOX4):c.1712G>A (p.Arg571Gln)	TOX4 (R548Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181367	NM_014828.4(TOX4):c.1655C>T (p.Ser552Phe)	TOX4 (S529F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181366	NM_014828.4(TOX4):c.1580A>G (p.His527Arg)	TOX4 (H504R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181365	NM_014828.4(TOX4):c.1552C>G (p.Arg518Gly)	TOX4 (R495G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181363	NM_014828.4(TOX4):c.1242A>C (p.Gln414His)	TOX4 (Q391H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2616207	NM_014828.4(TOX4):c.946C>T (p.Pro316Ser)	TOX4 (P293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612329	NM_014828.4(TOX4):c.334A>G (p.Ile112Val)	TOX4 (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604470	NM_014828.4(TOX4):c.55C>G (p.Pro19Ala)	TOX4 (P19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580329	GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1	CHD8, METTL3 +5 more	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2559338	NM_014828.4(TOX4):c.1091A>G (p.Asn364Ser)	TOX4 (N341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557986	NM_014828.4(TOX4):c.524C>A (p.Thr175Asn)	TOX4 (T175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530226	NM_014828.4(TOX4):c.1610T>C (p.Ile537Thr)	TOX4 (I537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518416	NM_014828.4(TOX4):c.515G>C (p.Arg172Pro)	TOX4 (R149P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464902	NM_014828.4(TOX4):c.1558A>G (p.Met520Val)	TOX4 (M497V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426543	NC_000014.8:g.(?_21671278)_(22005055_?)dup	CHD8, HNRNPC +6 more	Duplication	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2397284	NM_014828.4(TOX4):c.1553G>A (p.Arg518Gln)	TOX4 (R518Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391453	NM_014828.4(TOX4):c.1547C>G (p.Pro516Arg)	TOX4 (P493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374510	NM_014828.4(TOX4):c.1315C>G (p.Pro439Ala)	TOX4 (P416A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354656	NM_014828.4(TOX4):c.1051G>A (p.Val351Met)	TOX4 (V328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346022	NM_014828.4(TOX4):c.1141A>G (p.Met381Val)	TOX4 (M381V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343399	NM_014828.4(TOX4):c.994A>G (p.Ile332Val)	TOX4 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342046	NM_014828.4(TOX4):c.1541G>A (p.Ser514Asn)	TOX4 (S491N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338357	NM_014828.4(TOX4):c.214A>C (p.Ser72Arg)	TOX4 (S49R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323059	NM_014828.4(TOX4):c.655G>A (p.Asp219Asn)	TOX4 (D196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315147	NM_014828.4(TOX4):c.1286C>T (p.Ala429Val)	TOX4 (A429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305678	NM_014828.4(TOX4):c.601G>A (p.Val201Ile)	TOX4 (V178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304262	NM_014828.4(TOX4):c.1424C>T (p.Pro475Leu)	TOX4 (P475L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295139	NM_014828.4(TOX4):c.1325G>A (p.Arg442Gln)	TOX4 (R442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294467	NM_014828.4(TOX4):c.122C>A (p.Pro41His)	TOX4 (P18H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285611	NM_014828.4(TOX4):c.865G>A (p.Ala289Thr)	TOX4 (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280766	NM_014828.4(TOX4):c.1781A>G (p.Asn594Ser)	TOX4 (N594S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259067	NM_019852.5(METTL3):c.1685T>C (p.Val562Ala)	METTL3, TOX4 (V562A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242555	NM_014828.4(TOX4):c.1633G>A (p.Val545Ile)	TOX4 (V522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527804	GRCh37/hg19 14q11.2(chr14:21908729-22011463)	METTL3, RAB2B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 1075073	NC_000014.8:g.(?_21756136)_(22005055_?)del	CHD8, METTL3 +5 more	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815632	GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1	HNRNPC, RAB2B +6 more	Copy number loss	not provided	GPathogenic
Select item 815631	GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1	CHD8, SALL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57749	GRCh38/hg38 14q11.2(chr14:21408814-21517190)x1	CHD8, LOC121838586 +9 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73