3827[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 156903	CM000665.1:g.186411076_186494422dup	KNG1	Duplication	Normal pregnancy	Gnot provided
Select item 827589	NM_001102416.3(KNG1):c.-85T>A	KNG1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 3116127	NM_001102416.3(KNG1):c.70G>A (p.Glu24Lys)	KNG1 (E24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544825	NM_001102416.3(KNG1):c.127A>C (p.Lys43Gln)	KNG1 (K43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116118	NM_001102416.3(KNG1):c.131A>G (p.Tyr44Cys)	KNG1 (Y44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052145	NM_001102416.3(KNG1):c.159G>A (p.Gln53=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GLikely benign
Select item 1703771	NM_001102416.3(KNG1):c.162T>G (p.Phe54Leu)	KNG1 (F54L)	Single nucleotide variant (missense variant)	Thrombus +1 more	GUncertain significance
Select item 2431559	NM_001102416.3(KNG1):c.166T>G (p.Leu56Val)	KNG1 (L56V)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 6 +1 more	GConflicting classifications of pathogenicity
Select item 3059701	NM_001102416.3(KNG1):c.246T>C (p.Asp82=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GBenign
Select item 2578035	NM_001102416.3(KNG1):c.306+2T>A	KNG1	Single nucleotide variant (splice donor variant)	High molecular weight kininogen deficiency	GPathogenic
Select item 3116121	NM_001102416.3(KNG1):c.310A>T (p.Thr104Ser)	KNG1 (T104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409725	NM_001102416.3(KNG1):c.323C>T (p.Thr108Met)	KNG1 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059276	NM_001102416.3(KNG1):c.324G>A (p.Thr108=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GBenign
Select item 2654339	NM_001102416.3(KNG1):c.350C>T (p.Thr117Met)	KNG1 (T117M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2377713	NM_001102416.3(KNG1):c.374C>A (p.Thr125Asn)	KNG1 (T125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116122	NM_001102416.3(KNG1):c.383T>G (p.Ile128Ser)	KNG1 (I128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827590	NM_001102416.3(KNG1):c.421G>A (p.Asp141Asn)	KNG1 (D141N)	Single nucleotide variant (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 2542521	NM_001102416.3(KNG1):c.460C>G (p.Pro154Ala)	KNG1 (P154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116123	NM_001102416.3(KNG1):c.488G>A (p.Gly163Asp)	KNG1 (G163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 572	NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter)	KNG1 (R196*)	Single nucleotide variant (nonsense +1 more)	High molecular weight kininogen deficiency	GPathogenic
Select item 3116124	NM_001102416.3(KNG1):c.587G>A (p.Arg196Gln)	KNG1 (R196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038288	NM_001102416.3(KNG1):c.591T>G (p.Ile197Met)	KNG1 (I197M)	Single nucleotide variant (missense variant +1 more)	KNG1-related disorder	GBenign
Select item 3116125	NM_001102416.3(KNG1):c.646C>G (p.Pro216Ala)	KNG1 (P216A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489644	NM_001102416.3(KNG1):c.679G>A (p.Gly227Ser)	KNG1 (G191S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116126	NM_001102416.3(KNG1):c.703A>G (p.Ile235Val)	KNG1 (I235V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294572	NM_001102416.3(KNG1):c.711T>G (p.Ile237Met)	KNG1 (I201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578037	NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter)	KNG1 (R204* +1 more)	Single nucleotide variant (nonsense)	High molecular weight kininogen deficiency	GPathogenic
Select item 2581707	NM_001102416.3(KNG1):c.727T>G (p.Ser243Ala)	KNG1 (S207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730929	NM_001102416.3(KNG1):c.747C>T (p.Asp249=)	KNG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721323	NM_001102416.3(KNG1):c.757+3A>G	KNG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2480671	NM_001102416.3(KNG1):c.896T>G (p.Phe299Cys)	KNG1 (F263C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212582	NM_001102416.3(KNG1):c.908A>G (p.Asn303Ser)	KNG1 (N303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116128	NM_001102416.3(KNG1):c.911T>A (p.Val304Glu)	KNG1 (V304E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553091	NM_001102416.3(KNG1):c.935T>G (p.Val312Gly)	KNG1 (V276G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389557	NM_001102416.3(KNG1):c.986C>G (p.Ser329Cys)	KNG1 (S329C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227771	NM_001102416.3(KNG1):c.1012G>A (p.Glu338Lys)	KNG1 (E302K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578036	NM_001102416.3(KNG1):c.1038+1G>A	KNG1	Single nucleotide variant (splice donor variant)	High molecular weight kininogen deficiency	GPathogenic
Select item 3041593	NM_001102416.3(KNG1):c.1053C>T (p.Cys351=)	KNG1	Single nucleotide variant (synonymous variant)	KNG1-related disorder	GLikely benign
Select item 2486552	NM_001102416.3(KNG1):c.1070T>A (p.Val357Glu)	KNG1 (V321E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030394	NM_001102416.3(KNG1):c.1106A>G (p.Asn369Ser)	KNG1 (N333S +1 more)	Single nucleotide variant (missense variant)	KNG1-related disorder	GUncertain significance
Select item 574	NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG	KNG1	Indel (intron variant)	High molecular weight kininogen deficiency	GAffects
Select item 1162306	NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys)	KNG1 (M379K +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 6	GPathogenic
Select item 1803726	NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter)	KNG1 (R353* +1 more)	Single nucleotide variant (nonsense)	High molecular weight kininogen deficiency	GPathogenic
Select item 2334368	NM_001102416.3(KNG1):c.1166G>T (p.Arg389Leu)	KNG1 (R353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599908	NM_001102416.3(KNG1):c.1171T>C (p.Ser391Pro)	KNG1 (S391P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474720	NM_001102416.3(KNG1):c.1189A>G (p.Lys397Glu)	KNG1 (K397E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230552	NM_001102416.3(KNG1):c.1202C>T (p.Thr401Ile)	KNG1 (T365I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116117	NM_001102416.3(KNG1):c.1204G>A (p.Val402Ile)	KNG1 (V402I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 575	NM_001102416.3(KNG1):c.1216dup (p.His406fs)	KNG1 (H406fs)	Duplication (frameshift variant +1 more)	High molecular weight kininogen deficiency	GAffects
Select item 1049825	NM_001102416.3(KNG1):c.1234G>A (p.Ala412Thr)	KNG1 (A412T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3058543	NM_001102416.3(KNG1):c.1254T>C (p.Asp418=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign
Select item 2553220	NM_001102416.3(KNG1):c.1280G>A (p.Arg427His)	KNG1 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271525	NM_001102416.3(KNG1):c.1345C>T (p.Arg449Cys)	KNG1 (R449C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390023	NM_001102416.3(KNG1):c.1404G>C (p.Gln468His)	KNG1 (Q468H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400167	NM_001102416.3(KNG1):c.1409G>T (p.Gly470Val)	KNG1 (G470V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470725	NM_001102416.3(KNG1):c.1430T>G (p.Phe477Cys)	KNG1 (F477C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654340	NM_001102416.3(KNG1):c.1431C>T (p.Phe477=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3057213	NM_001102416.3(KNG1):c.1461G>A (p.Gly487=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign
Select item 573	NM_001102416.3(KNG1):c.1493del (p.Lys498fs)	KNG1 (K498fs)	Deletion (frameshift variant +1 more)	High molecular weight kininogen deficiency	GAffects
Select item 3056243	NM_001102416.3(KNG1):c.1590C>T (p.Asp530=)	KNG1	Single nucleotide variant (synonymous variant +1 more)	KNG1-related disorder	GLikely benign
Select item 2559798	NM_001102416.3(KNG1):c.1618G>A (p.Glu540Lys)	KNG1 (E540K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1162307	NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala)	KNG1 (P574A)	Single nucleotide variant (missense variant +1 more)	Angioedema, hereditary, 6	GPathogenic
Select item 3116120	NM_001102416.3(KNG1):c.1810T>A (p.Ser604Thr)	KNG1 (S604T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324476	NM_001102416.3(KNG1):c.1846G>A (p.Gly616Arg)	KNG1 (G616R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225401	NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs)	KNG1 (S623fs)	Deletion (frameshift variant +1 more)	High molecular weight kininogen deficiency	GUncertain significance
Select item 403021	NM_001102416.3(KNG1):c.*1404C>T	KNG1 (R412* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GBenign
Select item 2307889	NM_001102416.3(KNG1):c.*1428C>T	KNG1 (P384S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	HRG, TBCCD1 +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2