ClinVar for Gene (Select 4153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063125	GRCh37/hg19 10q21.1(chr10:54459920-56080457)x1	MBL2, PCDH15	Copy number loss	not specified	GPathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640480	NM_001378373.1(MBL2):c.118T>G (p.Ser40Ala)	MBL2 (S40A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640479	NM_001378373.1(MBL2):c.726C>A (p.Ala242=)	MBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635789	NM_001378373.1(MBL2):c.450A>G (p.Lys150=)	MBL2	Single nucleotide variant (synonymous variant)	MBL2-related condition	GUncertain significance
Select item 2634700	NM_001378373.1(MBL2):c.218dup (p.Gly74fs)	MBL2 (G74fs)	Duplication (frameshift variant)	MBL2-related condition	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2555602	NM_001378373.1(MBL2):c.101C>A (p.Ala34Glu)	MBL2 (A34E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466721	NM_001378373.1(MBL2):c.212G>C (p.Gly71Ala)	MBL2 (G71A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393545	NM_001378373.1(MBL2):c.727G>A (p.Val243Ile)	MBL2 (V243I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392211	NM_001378373.1(MBL2):c.194G>C (p.Gly65Ala)	MBL2 (G65A)	Single nucleotide variant (missense variant)	MBL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2297851	NM_001378373.1(MBL2):c.556A>C (p.Ile186Leu)	MBL2 (I186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208781	NM_001378373.1(MBL2):c.518C>A (p.Ala173Asp)	MBL2 (A173D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527584	GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)	CSTF2T, DKK1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1030691	NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr)	MBL2 (K150T)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 1023392	NC_000010.10:g.(?_54011320)_(54530789_?)dup	DKK1, MBL2 +1 more	Duplication	Aortic aneurysm, familial thoracic 8	GUncertain significance
Select item 880014	NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)	MBL2 (D219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 880013	NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)	MBL2 (E245K)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency +1 more	GUncertain significance
Select item 880012	NM_001378373.1(MBL2):c.*3G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 880011	NM_001378373.1(MBL2):c.*7A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879953	NM_001378373.1(MBL2):c.*1743T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879952	NM_001378373.1(MBL2):c.*1839A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879647	NM_001378373.1(MBL2):c.*366G>A	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879646	NM_001378373.1(MBL2):c.*708G>A	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879645	NM_001378373.1(MBL2):c.*783C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 879599	NM_001378373.1(MBL2):c.*2032C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878857	NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro)	MBL2 (L9P)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878856	NM_001378373.1(MBL2):c.99T>G (p.Pro33=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878855	NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser)	MBL2 (A37S)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878256	NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser)	MBL2 (G45S)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878255	NM_001378373.1(MBL2):c.187+9T>C	MBL2	Single nucleotide variant (intron variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878254	NM_001378373.1(MBL2):c.249G>T (p.Gly83=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878253	NM_001378373.1(MBL2):c.303G>A (p.Pro101=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878195	NM_001378373.1(MBL2):c.*966A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878194	NM_001378373.1(MBL2):c.*1213C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878132	NM_001378373.1(MBL2):c.*2129T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878131	NM_001378373.1(MBL2):c.*2207G>A	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878130	NM_001378373.1(MBL2):c.*2209T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 878129	NM_001378373.1(MBL2):c.*2457G>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877215	NM_001378373.1(MBL2):c.408C>T (p.Asn136=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877214	NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro)	MBL2 (T164P)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877213	NM_001378373.1(MBL2):c.549C>T (p.Phe183=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877212	NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys)	MBL2 (Q194K)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877160	NM_001378373.1(MBL2):c.*1252A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877159	NM_001378373.1(MBL2):c.*1448C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877097	NM_001378373.1(MBL2):c.*2648C>A	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 877096	NM_001378373.1(MBL2):c.*2751A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 815346	GRCh37/hg19 10q21.1(chr10:53802602-55217542)x3	PRKG1, DKK1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 752623	NM_001378373.1(MBL2):c.226T>C (p.Leu76=)	MBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736719	NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)	MBL2 (N176S)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 705158	NM_001378373.1(MBL2):c.187+8T>C	MBL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695181	NM_001378373.1(MBL2):c.187+5G>A	MBL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687804	GRCh37/hg19 10q21.1(chr10:54276542-58024820)x1	MBL2, MTRNR2L5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 631637	NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)	MBL2 (E210*)	Single nucleotide variant (nonsense)	Mannose-binding lectin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441944	GRCh37/hg19 10q21.1(chr10:54107521-54790035)x3	MBL2	Copy number gain	See cases	GUncertain significance
Select item 403073	NM_001378373.1(MBL2):c.132C>T (p.Asn44=)	MBL2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 368900	NM_000242.2(MBL2):c.-66C>T	MBL2	Single nucleotide variant (genic upstream transcript variant)	Mannose-binding lectin deficiency	GLikely benign
Select item 300152	NM_001378373.1(MBL2):c.-9-5C>G	MBL2	Single nucleotide variant (5 prime UTR variant +1 more)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300151	NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)	MBL2 (T55A)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300150	NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu)	MBL2 (K56E)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300149	NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)	MBL2 (P101L)	Single nucleotide variant (missense variant)	MBL2-related condition +1 more	GUncertain significance
Select item 300148	NM_001378373.1(MBL2):c.378C>G (p.Leu126=)	MBL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 300147	NM_001378373.1(MBL2):c.483T>C (p.Ser161=)	MBL2	Single nucleotide variant (synonymous variant)	MBL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 300146	NM_001378373.1(MBL2):c.*99T>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300145	NM_001378373.1(MBL2):c.*282A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300144	NM_001378373.1(MBL2):c.*289C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300143	NM_001378373.1(MBL2):c.*324C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300142	NM_001378373.1(MBL2):c.*447G>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300141	NM_001378373.1(MBL2):c.*674A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300140	NM_001378373.1(MBL2):c.*675C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300139	NM_001378373.1(MBL2):c.*865A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300138	NM_001378373.1(MBL2):c.*937A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300137	NM_001378373.1(MBL2):c.*953T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300136	NM_001378373.1(MBL2):c.*1088C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300135	NM_001378373.1(MBL2):c.*1134C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300134	NM_001378373.1(MBL2):c.*1135A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300133	NM_001378373.1(MBL2):c.*1136A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300132	NM_001378373.1(MBL2):c.*1144A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300131	NM_001378373.1(MBL2):c.*1275T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 300130	NM_001378373.1(MBL2):c.*1287C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300129	NM_001378373.1(MBL2):c.*1429A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300128	NM_001378373.1(MBL2):c.*1452A>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300127	NM_001378373.1(MBL2):c.*1498C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300126	NM_001378373.1(MBL2):c.*1568C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300125	NM_001378373.1(MBL2):c.*1569A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300124	NM_001378373.1(MBL2):c.*1691G>A	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GLikely benign

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