ClinVar for MedGen (Select 6146) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362521	NM_015967.8(PTPN22):c.91C>G (p.Leu31Val)	AP4B1-AS1, PTPN22 (L31V)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GUncertain significance
Select item 3067943	NM_005223.4(DNASE1):c.91C>T (p.Gln31Ter)	DNASE1 (Q31*)	Single nucleotide variant (nonsense +2 more)	Systemic lupus erythematosus	GLikely pathogenic
Select item 3065185	NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)	DNASE1 (R133Q +1 more)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus	GUncertain significance
Select item 1704361	NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)	DNASE1 (D129N +1 more)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus	GUncertain significance
Select item 1676725	NM_001715.3(BLK):c.843T>G (p.Phe281Leu)	BLK (F210L +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	Gassociation
Select item 1675086	NM_001136219.3(FCGR2A):c.780+1G>A	FCGR2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 1675085	NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)	FCGR2A (S165F +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +2 more	GUncertain significance
Select item 1341705	NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys)	TLR7 (E906K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1330375	NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu)	TLR7 (F507L)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus 17 +1 more	GPathogenic
Select item 1192495	NM_001715.3(BLK):c.1313-28C>T	BLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192426	NM_001715.3(BLK):c.1030-38C>T	BLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192425	NM_001715.3(BLK):c.176-104G>A	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 1192424	NM_001715.3(BLK):c.123+88G>T	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 1192423	NM_001715.3(BLK):c.-1-53G>A	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 1192422	NM_001715.3(BLK):c.-1-105C>G	BLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 977216	NM_003745.2(SOCS1):c.460T>C (p.Tyr154His)	SOCS1 (Y154H)	Single nucleotide variant (missense variant)	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITHOUT IMMUNODEFICIENCY +1 more	GPathogenic/Likely pathogenic
Select item 977215	NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp)	LOC130058479, SOCS1 (R22W)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +1 more	GPathogenic/Likely pathogenic
Select item 973637	NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg)	DNASE1 (G127R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 960475	NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)	TREX1, ATRIP +1 more (R211S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 931952	NM_033629.6(TREX1):c.1A>G (p.Met1Val)	ATRIP, ATRIP-TREX1 +1 more (M1V)	Single nucleotide variant (non-coding transcript variant +4 more)	Systemic lupus erythematosus +4 more	GConflicting classifications of pathogenicity
Select item 930977	NM_033629.6(TREX1):c.856_865dup (p.Ala289fs)	ATRIP, ATRIP-TREX1 +1 more (A279fs +1 more)	Duplication (non-coding transcript variant +2 more)	Systemic lupus erythematosus	GPathogenic
Select item 839889	NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	ATRIP, ATRIP-TREX1 +1 more (S82fs +1 more)	Microsatellite (frameshift variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 810670	NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp)	DNASE2 (G322D)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GUncertain significance
Select item 647120	NM_033629.6(TREX1):c.250A>G (p.Ile84Val)	ATRIP, ATRIP-TREX1 +1 more (I84V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 636389	NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	CTLA4 (D153N +1 more)	Single nucleotide variant (missense variant)	Hashimoto thyroiditis +5 more	GConflicting classifications of pathogenicity
Select item 619210	NM_017935.5(BANK1):c.120G>C (p.Trp40Cys)	BANK1 (W40C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 619209	NM_001715.3(BLK):c.344G>A (p.Arg115Gln)	BLK (R115Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619208	NM_001715.3(BLK):c.301G>A (p.Val101Ile)	BLK (V101I +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GBenign
Select item 619207	NM_001715.3(BLK):c.252G>C (p.Lys84Asn)	BLK (K84N +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GBenign
Select item 619206	NM_001715.3(BLK):c.164A>G (p.His55Arg)	BLK (H55R)	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 619205	NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)	BLK (R359C +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 619204	NM_001715.3(BLK):c.1048T>C (p.Tyr350His)	BLK (Y350H +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GPathogenic
Select item 619203	NM_001715.3(BLK):c.919C>G (p.Pro307Ala)	BLK (P307A +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GPathogenic
Select item 619202	NM_001715.3(BLK):c.392G>A (p.Arg131Gln)	BLK, LOC126860303 (R131Q +1 more)	Single nucleotide variant (missense variant)	BLK-related disorder +1 more	GUncertain significance
Select item 619201	NM_001715.3(BLK):c.391C>T (p.Arg131Trp)	BLK, LOC126860303 (R131W +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 570429	NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)	ATRIP-TREX1, TREX1 +1 more (C208S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 549527	NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)	BLK (S341A +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 522920	NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	TREX1, ATRIP +1 more (P73L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +4 more	GConflicting classifications of pathogenicity
Select item 453308	NM_001114753.3(ENG):c.816+6T>C	ENG	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia	GUncertain significance
Select item 432079	NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	CTLA4 (P137L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 374471	NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)	ATRIP, ATRIP-TREX1 +1 more (S308C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +4 more	GUncertain significance
Select item 361506	NM_001715.3(BLK):c.*428G>A	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 361500	NM_001715.3(BLK):c.*176C>T	BLK	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 361498	NM_001715.3(BLK):c.*92G>C	BLK	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 361491	NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)	BLK (R353C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 361487	NM_001715.3(BLK):c.879C>T (p.His293=)	BLK	Single nucleotide variant (synonymous variant)	Systemic lupus erythematosus +3 more	GBenign/Likely benign
Select item 361486	NM_001715.3(BLK):c.753A>G (p.Gln251=)	BLK	Single nucleotide variant (synonymous variant)	Systemic lupus erythematosus +3 more	GBenign/Likely benign
Select item 361485	NM_001715.3(BLK):c.711C>T (p.Pro237=)	BLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 361484	NM_001715.3(BLK):c.672C>T (p.Ala224=)	BLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 361476	NM_001715.3(BLK):c.187G>A (p.Val63Met)	BLK (V63M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 361475	NM_001715.3(BLK):c.177C>G (p.Asp59Glu)	BLK (D59E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Duplication (frameshift variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 258178	NM_001715.3(BLK):c.472+12G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 258177	NM_001715.3(BLK):c.39G>A (p.Lys13=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign
Select item 258175	NM_001715.3(BLK):c.116C>T (p.Pro39Leu)	BLK (P39L)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 11 +2 more	GBenign/Likely benign
Select item 252650	NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)	DNASE1 (R207C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 210528	NM_001715.3(BLK):c.713G>A (p.Arg238Gln)	BLK (R238Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 209198	NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	TREX1, ATRIP +1 more (R114C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 128528	NM_001715.3(BLK):c.435C>T (p.Ala145=)	LOC126860303, BLK	Single nucleotide variant (synonymous variant)	Systemic lupus erythematosus +2 more	GBenign
Select item 128527	NM_001715.3(BLK):c.330T>C (p.Ser110=)	BLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 128526	NM_001715.3(BLK):c.258G>A (p.Gln86=)	BLK	Single nucleotide variant (synonymous variant)	Systemic lupus erythematosus +3 more	GBenign
Select item 128525	NM_001715.3(BLK):c.102C>T (p.Asp34=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign/Likely benign
Select item 126393	NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	ATRIP-TREX1, ATRIP +1 more	Deletion (non-coding transcript variant +2 more)	Chilblain lupus 1 +5 more	GPathogenic/Likely pathogenic

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Items: 63