6120[HGNC] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 3395	NM_001347928.2(IRF5):c.-12+596GCGGG[4]	IRF5	Microsatellite (intron variant)	Inflammatory bowel disease 14, susceptibility to +1 more	Grisk factor
Select item 3396	NM_001098629.3(IRF5):c.-12+198=	IRF5	Single nucleotide variant (intron variant +1 more)	Systemic lupus erythematosus, susceptibility to, 10 +1 more	GPathogenic; risk factor
Select item 1262643	NM_001098629.3(IRF5):c.-12+1563G>A	IRF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2354936	NM_001098629.3(IRF5):c.16C>G (p.Pro6Ala)	IRF5 (P6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398646	NM_001098629.3(IRF5):c.44T>G (p.Val15Gly)	IRF5 (V15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051361	NM_001098629.3(IRF5):c.195+10G>A	IRF5	Single nucleotide variant (intron variant)	IRF5-related disorder	GLikely benign
Select item 2525319	NM_001098629.3(IRF5):c.226G>A (p.Glu76Lys)	IRF5 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731102	NM_001098629.3(IRF5):c.249G>A (p.Pro83=)	IRF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750191	NM_001098629.3(IRF5):c.303C>T (p.Arg101=)	IRF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717681	NM_001098629.3(IRF5):c.354C>T (p.Tyr118=)	IRF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110867	NM_001098629.3(IRF5):c.413T>A (p.Phe138Tyr)	IRF5 (F138Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228036	NM_001098629.3(IRF5):c.421G>A (p.Gly141Arg)	IRF5 (G141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709580	NM_001098629.3(IRF5):c.447G>A (p.Glu149=)	IRF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2532841	NM_001098629.3(IRF5):c.494C>T (p.Ser165Phe)	IRF5 (S165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110868	NM_001098629.3(IRF5):c.535G>A (p.Val179Ile)	IRF5 (V163I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232805	NM_001098629.3(IRF5):c.541T>A (p.Trp181Arg)	IRF5 (W181R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768201	NM_001098629.3(IRF5):c.572_601del (p.Arg191_Leu200del)	IRF5	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 3110869	NM_001098629.3(IRF5):c.575C>T (p.Pro192Leu)	IRF5 (P182L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720376	NM_001098629.3(IRF5):c.576G>A (p.Pro192=)	IRF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2237883	NM_001098629.3(IRF5):c.605C>T (p.Pro202Leu)	IRF5 (P186L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594144	NM_001098629.3(IRF5):c.623C>T (p.Pro208Leu)	IRF5 (P198L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566662	NM_001098629.3(IRF5):c.650C>T (p.Ala217Val)	IRF5 (A201V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559884	NM_001098629.3(IRF5):c.650C>A (p.Ala217Asp)	IRF5 (A201D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110870	NM_001098629.3(IRF5):c.716T>C (p.Leu239Pro)	IRF5 (L223P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110871	NM_001098629.3(IRF5):c.722C>T (p.Ala241Val)	IRF5 (A215V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721497	NM_001098629.3(IRF5):c.729G>A (p.Leu243=)	IRF5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2237407	NM_001098629.3(IRF5):c.824G>A (p.Arg275Gln)	IRF5 (R259Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110873	NM_001098629.3(IRF5):c.829C>G (p.Pro277Ala)	IRF5 (P267A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271546	NM_001098629.3(IRF5):c.863G>A (p.Cys288Tyr)	IRF5 (C186Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238492	NM_001098629.3(IRF5):c.897G>C (p.Gln299His)	IRF5 (Q197H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362855	NM_001098629.3(IRF5):c.940C>T (p.Arg314Cys)	IRF5 (R212C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275313	NM_001098629.3(IRF5):c.1021C>A (p.Leu341Ile)	IRF5 (L315I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294011	NM_001098629.3(IRF5):c.1047C>A (p.Asp349Glu)	IRF5 (D333E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773496	NM_001098629.3(IRF5):c.1050T>G (p.Leu350=)	IRF5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2258696	NM_001098629.3(IRF5):c.1090G>A (p.Gly364Arg)	IRF5 (G338R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269258	NM_001098629.3(IRF5):c.1109A>G (p.His370Arg)	IRF5 (H360R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397154	NM_001098629.3(IRF5):c.1113C>G (p.Asp371Glu)	IRF5 (D345E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329156	NM_001098629.3(IRF5):c.1113C>A (p.Asp371Glu)	IRF5 (D345E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454963	NM_001098629.3(IRF5):c.1264C>T (p.Arg422Cys)	IRF5 (R406C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539592	NM_001098629.3(IRF5):c.1265G>A (p.Arg422His)	IRF5 (R412H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678447	NM_001098629.3(IRF5):c.1373G>A (p.Arg458Gln)	IRF5 (R356Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431589	NM_001098629.3(IRF5):c.1456C>T (p.Arg486Trp)	IRF5 (R384W +4 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 10	GUncertain significance
Select item 787867	NM_001098629.3(IRF5):c.1504G>A (p.Gly502Ser)	IRF5 (G400S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3398	NM_001098629.3(IRF5):c.*128T>C	IRF5	Single nucleotide variant (3 prime UTR variant)	Systemic lupus erythematosus, association with susceptibility to, 10	Grisk factor
Select item 3397	NM_001098629.3(IRF5):c.*555G>A	IRF5	Single nucleotide variant (3 prime UTR variant)	Systemic lupus erythematosus, susceptibility to, 10	Grisk factor
Select item 3245794	NC_000007.13:g.(?_128470692)_(128694824_?)del	ATP6V1F, FLNC +3 more	Deletion	Hypertrophic cardiomyopathy 26 +3 more	GPathogenic
Select item 3245743	NC_000007.13:g.(?_128388409)_(128694824_?)del	ATP6V1F, CALU +6 more	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1375554	NC_000007.13:g.(?_128470692)_(128694824_?)dup	ATP6V1F, FLNC +3 more	Duplication	Autosomal dominant limb-girdle muscular dystrophy type 1F +4 more	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 73