3662[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146366	GRCh38/hg38 6p25.3(chr6:163083-1365190)x1	DUSP22, EXOC2 +97 more	Copy number loss	See cases	GUncertain significance
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 32601	GRCh38/hg38 6p25.3(chr6:163083-918985)x1	DUSP22, EXOC2 +87 more	Copy number loss	See cases	GUncertain significance
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 57167	GRCh38/hg38 6p25.3(chr6:259528-439290)x1	DUSP22, IRF4 +50 more	Copy number loss	See cases	GBenign
Select item 145370	GRCh38/hg38 6p25.3(chr6:259531-439401)x3	DUSP22, IRF4 +50 more	Copy number gain	See cases	GBenign
Select item 146740	GRCh38/hg38 6p25.3(chr6:265806-588274)x3	DUSP22, EXOC2 +56 more	Copy number gain	See cases	GBenign
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 1272812	NM_002460.4(IRF4):c.-55-315G>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278447	NM_002460.4(IRF4):c.-55-232A>G	IRF4, LOC129995568	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2852933	NM_002460.4(IRF4):c.2T>G (p.Met1Arg)	IRF4 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1555544	NM_002460.4(IRF4):c.6C>T (p.Asn2=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2729493	NM_002460.4(IRF4):c.7C>T (p.Leu3=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780101	NM_002460.4(IRF4):c.14G>A (p.Gly5Asp)	IRF4 (G5D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968043	NM_002460.4(IRF4):c.16G>C (p.Gly6Arg)	IRF4 (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395491	NM_002460.4(IRF4):c.20G>A (p.Gly7Asp)	IRF4 (G7D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414544	NM_002460.4(IRF4):c.23G>A (p.Arg8Gln)	IRF4 (R8Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1390195	NM_002460.4(IRF4):c.23G>T (p.Arg8Leu)	IRF4 (R8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1634528	NM_002460.4(IRF4):c.27C>T (p.Gly9=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1351821	NM_002460.4(IRF4):c.36C>G (p.Phe12Leu)	IRF4 (F12L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790560	NM_002460.4(IRF4):c.39C>T (p.Gly13=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2127608	NM_002460.4(IRF4):c.41T>C (p.Met14Thr)	IRF4 (M14T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969143	NM_002460.4(IRF4):c.53G>A (p.Ser18Asn)	IRF4 (S18N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896292	NM_002460.4(IRF4):c.53G>C (p.Ser18Thr)	IRF4 (S18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958125	NM_002460.4(IRF4):c.66G>A (p.Gly22=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383762	NM_002460.4(IRF4):c.73C>G (p.Arg25Gly)	IRF4 (R25G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484917	NM_002460.4(IRF4):c.75C>T (p.Arg25=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1461971	NM_002460.4(IRF4):c.86T>G (p.Ile29Ser)	IRF4 (I29S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717885	NM_002460.4(IRF4):c.91C>G (p.Gln31Glu)	IRF4 (Q31E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177075	NM_002460.4(IRF4):c.112C>T (p.Pro38Ser)	IRF4 (P38S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1532310	NM_002460.4(IRF4):c.120G>A (p.Leu40=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964784	NM_002460.4(IRF4):c.129G>A (p.Glu43=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959792	NM_002460.4(IRF4):c.133G>C (p.Glu45Gln)	IRF4 (E45Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954294	NM_002460.4(IRF4):c.133GAG[1] (p.Glu46del)	IRF4 (E46del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1555026	NM_002460.4(IRF4):c.165G>A (p.Lys55=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569627	NM_002460.4(IRF4):c.171G>T (p.Ala57=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370374	NM_002460.4(IRF4):c.183C>G (p.Asp61Glu)	IRF4 (D61E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2805618	NM_002460.4(IRF4):c.207G>A (p.Ala69=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169632	NM_002460.4(IRF4):c.207G>C (p.Ala69=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1621912	NM_002460.4(IRF4):c.216+7G>A	IRF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855650	NM_002460.4(IRF4):c.216+9C>T	IRF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959695	NM_002460.4(IRF4):c.216+20G>T	IRF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250095	NM_002460.4(IRF4):c.217-178C>T	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266692	NM_002460.4(IRF4):c.217-110T>A	IRF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023979	NM_002460.4(IRF4):c.217-20T>G	IRF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583999	NM_002460.4(IRF4):c.217-19C>T	IRF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881558	NM_002460.4(IRF4):c.219T>G (p.Ala73=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1406322	NM_002460.4(IRF4):c.234A>G (p.Lys78=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863460	NM_002460.4(IRF4):c.244C>T (p.Arg82Ter)	IRF4 (R82*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2630955	NM_002460.4(IRF4):c.245G>A (p.Arg82Gln)	IRF4 (R82Q)	Single nucleotide variant (missense variant +1 more)	IRF4-related disorder	GUncertain significance
Select item 1919325	NM_002460.4(IRF4):c.262C>G (p.Pro88Ala)	IRF4 (P88A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1116007	NM_002460.4(IRF4):c.263C>A (p.Pro88Gln)	IRF4 (P88Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1657878	NM_002460.4(IRF4):c.264G>A (p.Pro88=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1639618	NM_002460.4(IRF4):c.276C>G (p.Thr92=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987365	NM_002460.4(IRF4):c.284C>G (p.Thr95Arg)	IRF4 (T95R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2106324	NM_002460.4(IRF4):c.284C>T (p.Thr95Met)	IRF4 (T95M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1642510	NM_002460.4(IRF4):c.285G>A (p.Thr95=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2047929	NM_002460.4(IRF4):c.287G>C (p.Arg96Pro)	IRF4 (R96P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1557594	NM_002460.4(IRF4):c.294G>T (p.Arg98=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811971	NM_002460.4(IRF4):c.297C>G (p.Cys99Trp)	IRF4 (C99W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1604014	NM_002460.4(IRF4):c.297C>T (p.Cys99=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2129846	NM_002460.4(IRF4):c.309G>T (p.Lys103Asn)	IRF4 (K103N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889516	NM_002460.4(IRF4):c.328C>A (p.Leu110Met)	IRF4 (L110M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013810	NM_002460.4(IRF4):c.337C>T (p.Arg113Trp)	IRF4 (R113W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1359527	NM_002460.4(IRF4):c.338G>A (p.Arg113Gln)	IRF4 (R113Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1579377	NM_002460.4(IRF4):c.354C>T (p.Ile118=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007872	NM_002460.4(IRF4):c.363G>A (p.Pro121=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815301	NM_002460.4(IRF4):c.365A>G (p.Tyr122Cys)	IRF4 (Y122C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858938	NM_002460.4(IRF4):c.373T>C (p.Tyr125His)	IRF4 (Y125H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478272	NM_002460.4(IRF4):c.377G>A (p.Arg126Lys)	IRF4 (R126K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861379	NM_002460.4(IRF4):c.378G>T (p.Arg126Ser)	IRF4 (R126S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815154	NM_002460.4(IRF4):c.403G>A (p.Gly135Arg)	IRF4 (G135R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975166	NM_002460.4(IRF4):c.403+2T>C	IRF4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2777972	NM_002460.4(IRF4):c.403+4G>C	IRF4	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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