ClinVar for Gene (Select 3659) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3110832	NM_002198.3(IRF1):c.287A>G (p.Asp96Gly)	IRF1, LOC126807508 (D96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034336	NM_002198.3(IRF1):c.415-10C>T	IRF1, LOC126807508	Single nucleotide variant (intron variant)	IRF1-related disorder	GLikely benign
Select item 2688486	NM_002198.3(IRF1):c.853+133G>T	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688410	NM_002198.3(IRF1):c.717+113C>T	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688403	NM_002198.3(IRF1):c.718-86G>T	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688399	NM_002198.3(IRF1):c.853+77G>A	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688398	NM_002198.3(IRF1):c.853+84A>G	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688385	NM_002198.3(IRF1):c.667+77A>C	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688383	NM_002198.3(IRF1):c.544+25A>G	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688382	NM_002198.3(IRF1):c.545-68A>G	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688381	NM_002198.3(IRF1):c.545-7T>C	IRF1, LOC126807508	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688380	NM_002198.3(IRF1):c.555A>G (p.Pro185=)	IRF1, LOC126807508	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2688379	NM_002198.3(IRF1):c.854-33C>T	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688378	NM_002198.3(IRF1):c.854-31A>G	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688210	NM_002198.3(IRF1):c.187+99T>C	IRF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2686001	NM_002198.3(IRF1):c.103C>T (p.Gln35Ter)	IRF1 (Q35*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 117	GPathogenic
Select item 2686000	NM_002198.3(IRF1):c.385C>T (p.Arg129Ter)	IRF1, LOC126807508 (R129*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 117	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2343757	NM_002198.3(IRF1):c.524T>C (p.Val175Ala)	IRF1, LOC126807508 (V175A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291335	NM_002198.3(IRF1):c.357G>C (p.Gln119His)	IRF1, LOC126807508 (Q119H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219731	NM_002198.3(IRF1):c.877C>T (p.Arg293Cys)	IRF1 (R252C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214482	NM_002198.3(IRF1):c.434C>T (p.Pro145Leu)	IRF1, LOC126807508 (P145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790794	NM_002198.3(IRF1):c.345C>G (p.Leu115=)	IRF1, LOC126807508	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSF1R +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 14721	NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)	IRF1 (W11R)	Single nucleotide variant (missense variant +1 more)	Non-small cell lung carcinoma	GPathogenic
Select item 14720	NM_002198.3(IRF1):c.22A>T (p.Met8Leu)	IRF1 (M8L)	Single nucleotide variant (missense variant +1 more)	Gastric cancer	GPathogenic

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Links from Gene

Items: 41