ClinVar for MedGen (Select 943107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675106	NM_001370466.1(NOD2):c.963A>G (p.Leu321=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +4 more	GConflicting classifications of pathogenicity
Select item 1576458	NM_001080467.3(MYO5B):c.4637C>T (p.Thr1546Met)	MYO5B, SNHG22 (T1546M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1550312	NM_001370466.1(NOD2):c.2022C>T (p.Leu674=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 1484179	NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)	NOD2 (R439C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 1453223	NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys)	NOD2 (E573K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 1433708	NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile)	NOD2 (T371I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 1391926	NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	NOD2 (A597V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 1371235	NM_001370466.1(NOD2):c.1037G>A (p.Arg346His)	NOD2 (R346H +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
Select item 1271175	NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	LOC126807125, SLC39A8 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1081281	NM_001080467.3(MYO5B):c.2306T>A (p.Ile769Asn)	MYO5B (I769N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1026999	NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly)	NOD2 (R615G +1 more)	Single nucleotide variant (missense variant +1 more)	Yao syndrome +3 more	GUncertain significance
Select item 1025574	NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)	NOD2, CYLD-AS1 (T969I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 992540	NM_001370466.1(NOD2):c.2116G>A (p.Val706Met)	NOD2 (V706M +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GUncertain significance
Select item 968236	NM_001370466.1(NOD2):c.706G>A (p.Val236Met)	NOD2 (V236M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 957790	NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe)	NOD2 (L742F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 957653	NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn)	NOD2 (D363N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 950442	NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly)	NOD2 (R676G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 950012	NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)	NOD2 (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +5 more	GUncertain significance
Select item 947472	NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)	NOD2 (C815R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 947025	NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp)	NOD2 (V487D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 944793	NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln)	NOD2 (R319Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 888495	NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)	NOD2 (A531S +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 887669	NM_001370466.1(NOD2):c.*609C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 887606	NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro)	NOD2 (S947P +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 887426	NM_001370466.1(NOD2):c.2781C>T (p.Asn927=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 887101	NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)	NOD2 (L145F +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 886159	NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)	NOD2 (T202M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 886097	NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)	NOD2 (A83T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 886096	NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)	NOD2 (A105T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 885458	NM_001370466.1(NOD2):c.*1200A>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 885390	NM_001370466.1(NOD2):c.*183C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 885263	NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)	NOD2 (T191I +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 885262	NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp)	NOD2 (A170D +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +3 more	GUncertain significance
Select item 885199	NM_001370466.1(NOD2):c.-8-2202A>G	NOD2 (R15G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 884522	NM_001370466.1(NOD2):c.*1013A>G	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 884458	NM_001370466.1(NOD2):c.*64G>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 856618	NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys)	NOD2 (R843K +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 847889	NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro)	NOD2 (L368P +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 845320	NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln)	NOD2 (K834Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 843152	NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu)	NOD2 (Q574E +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 838660	NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp)	NOD2 (G380D +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 836006	NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr)	NOD2 (P618T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 827986	NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met)	NOD2 (T569M +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +3 more	GUncertain significance
Select item 808041	NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)	NOD2 (G908C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 799257	NM_001370466.1(NOD2):c.510C>T (p.Ala170=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 779017	NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)	NOD2 (R657Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +6 more	GConflicting classifications of pathogenicity
Select item 765940	NM_001370466.1(NOD2):c.789C>T (p.Asp263=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 765296	NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)	NOD2 (Q889H +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 758255	NM_001370466.1(NOD2):c.2881C>T (p.Leu961=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 752528	NM_001370466.1(NOD2):c.9G>A (p.Ser3=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 741062	NM_001370466.1(NOD2):c.2295C>T (p.Pro765=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +3 more	GLikely benign
Select item 729508	NM_001370466.1(NOD2):c.216C>T (p.Ala72=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 725043	NM_001370466.1(NOD2):c.1188G>A (p.Val396=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653293	NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)	NOD2 (R717W +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 651644	NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)	NOD2 (A432V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 650404	NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)	NOD2 (P723L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 649658	NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)	NOD2 (F582C +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 634817	NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter)	NOD2 (Q574* +1 more)	Single nucleotide variant (nonsense +1 more)	Inflammatory bowel disease 1	GPathogenic
Select item 631749	NM_001370466.1(NOD2):c.2465+1G>A	NOD2	Single nucleotide variant (splice donor variant)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625983	NM_001370466.1(NOD2):c.1529C>A (p.Pro510His)	NOD2 (P537H +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 586982	NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu)	PRKCQ (P205L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 581599	NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)	NOD2 (L343P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 546773	NM_001370466.1(NOD2):c.-8-2185C>T	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 531615	NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)	NOD2 (P125L +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GLikely benign
Select item 531614	NM_001370466.1(NOD2):c.2652G>A (p.Val884=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 531613	NM_001370466.1(NOD2):c.1755G>A (p.Ala585=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +2 more	GLikely benign
Select item 531609	NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr)	NOD2 (A976T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 531604	NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe)	NOD2 (S974F +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 531599	NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)	NOD2 (P397L +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 462700	NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)	NOD2 (A140T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 372135	NM_005527.4(HSPA1L):c.515_517del (p.Leu172del)	HSPA1L (L172del)	Deletion (inframe_deletion)	Inflammatory bowel disease 1	Gassociation
Select item 372134	NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser)	HSPA1L (G77S)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 1	Gassociation
Select item 372133	NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile)	HSPA1L (T267I)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 1	Gassociation
Select item 372132	NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr)	HSPA1L (A268T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 372131	NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala)	HSPA1L (E558A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 319493	NM_001370466.1(NOD2):c.*1201T>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319492	NM_001370466.1(NOD2):c.*1156G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +3 more	GBenign
Select item 319491	NM_001370466.1(NOD2):c.*1023C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319490	NM_001370466.1(NOD2):c.*990T>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319489	NM_001370466.1(NOD2):c.*877C>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319488	NM_001370466.1(NOD2):c.*873C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319487	NM_001370466.1(NOD2):c.*620G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319486	NM_001370466.1(NOD2):c.*521C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign
Select item 319485	NM_001370466.1(NOD2):c.*470C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319484	NM_001370466.1(NOD2):c.*462C>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319483	NM_001370466.1(NOD2):c.*422C>G	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319482	NM_001370466.1(NOD2):c.*397A>C	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 319481	NM_001370466.1(NOD2):c.*394C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319480	NM_001370466.1(NOD2):c.*382C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 319478	NM_001370466.1(NOD2):c.*325G>A	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319477	NM_001370466.1(NOD2):c.*186C>G	NOD2, CYLD-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319476	NM_001370466.1(NOD2):c.*89C>T	CYLD-AS1, NOD2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 319475	NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)	CYLD-AS1, NOD2 (G1032S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 319473	NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)	NOD2 (E914K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319472	NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 319471	NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)	NOD2 (Q902K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 319470	NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319469	NM_001370466.1(NOD2):c.2466-11G>T	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +2 more	GBenign/Likely benign
Select item 319468	NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)	NOD2 (I832V +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +3 more	GUncertain significance
Select item 319467	NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)	NOD2 (R830Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity

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