MBL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148667	GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1	CSTF2T, DKK1 +18 more	Copy number loss	See cases	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 300104	NM_001378373.1(MBL2):c.*2727G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300105	NM_001378373.1(MBL2):c.*2702G>A	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 300106	NM_001378373.1(MBL2):c.*2477C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300107	NM_001378373.1(MBL2):c.*2470A>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 300108	NM_001378373.1(MBL2):c.*2450A>T	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 300109	NM_001378373.1(MBL2):c.*2388T>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	GLikely benign
Select item 300110	NM_001378373.1(MBL2):c.*2219A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	GLikely benign
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 878131	NM_001378373.1(MBL2):c.*2207G>A	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 300111	NM_001378373.1(MBL2):c.*2067C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300112	NM_001378373.1(MBL2):c.*2066G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300113	NM_001378373.1(MBL2):c.*2048A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	GLikely benign
Select item 300114	NM_001378373.1(MBL2):c.*2040G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 300115	NM_001378373.1(MBL2):c.*2033G>A	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 300116	NM_001378373.1(MBL2):c.*1995del	MBL2	Deletion (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 300117	NM_001378373.1(MBL2):c.*1913C>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	GLikely benign
Select item 300118	NM_001378373.1(MBL2):c.*1879A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 300119	NM_001378373.1(MBL2):c.*1857A>G	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 300120	NM_001378373.1(MBL2):c.*1819T>C	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 300121	NM_001378373.1(MBL2):c.*1711T>G	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 300122	NM_001378373.1(MBL2):c.*1695G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 300123	NM_001378373.1(MBL2):c.*1694G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 300124	NM_001378373.1(MBL2):c.*1691G>A	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 300126	NM_001378373.1(MBL2):c.*1568C>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 300128	NM_001378373.1(MBL2):c.*1452A>T	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 300129	NM_001378373.1(MBL2):c.*1429A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
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 300131	NM_001378373.1(MBL2):c.*1275T>C	MBL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 878194	NM_001378373.1(MBL2):c.*1213C>T	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 300133	NM_001378373.1(MBL2):c.*1136A>G	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 +1 more	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 300136	NM_001378373.1(MBL2):c.*1088C>T	MBL2	Single nucleotide variant (3 prime UTR 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 300137	NM_001378373.1(MBL2):c.*953T>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 300139	NM_001378373.1(MBL2):c.*865A>C	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency +1 more	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 879646	NM_001378373.1(MBL2):c.*708G>A	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 300141	NM_001378373.1(MBL2):c.*674A>G	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 879647	NM_001378373.1(MBL2):c.*366G>A	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 300144	NM_001378373.1(MBL2):c.*289C>T	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 300146	NM_001378373.1(MBL2):c.*99T>G	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
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 880012	NM_001378373.1(MBL2):c.*3G>T	MBL2	Single nucleotide variant (3 prime UTR variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 880013	NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)	MBL2 (E245K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2393545	NM_001378373.1(MBL2):c.727G>A (p.Val243Ile)	MBL2 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640479	NM_001378373.1(MBL2):c.726C>A (p.Ala242=)	MBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124072	NM_001378373.1(MBL2):c.703C>A (p.Pro235Thr)	MBL2 (P235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293535	NM_001378373.1(MBL2):c.700G>A (p.Val234Ile)	MBL2 (V234I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 880014	NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)	MBL2 (D219V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 631637	NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)	MBL2 (E210*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 2297851	NM_001378373.1(MBL2):c.556A>C (p.Ile186Leu)	MBL2 (I186L)	Single nucleotide variant (missense variant)	not specified	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 3124071	NM_001378373.1(MBL2):c.544G>C (p.Ala182Pro)	MBL2 (A182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736719	NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)	MBL2 (N176S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2208781	NM_001378373.1(MBL2):c.518C>A (p.Ala173Asp)	MBL2 (A173D)	Single nucleotide variant (missense variant)	not specified	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 300147	NM_001378373.1(MBL2):c.483T>C (p.Ser161=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency	GUncertain significance
Select item 2635789	NM_001378373.1(MBL2):c.450A>G (p.Lys150=)	MBL2	Single nucleotide variant (synonymous variant)	MBL2-related disorder	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 +1 more	GUncertain significance
Select item 877215	NM_001378373.1(MBL2):c.408C>T (p.Asn136=)	MBL2	Single nucleotide variant (synonymous variant)	Mannose-binding lectin deficiency +1 more	GUncertain significance
Select item 300148	NM_001378373.1(MBL2):c.378C>G (p.Leu126=)	MBL2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 300149	NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)	MBL2 (P101L)	Single nucleotide variant (missense variant)	Mannose-binding lectin deficiency +1 more	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 752623	NM_001378373.1(MBL2):c.226T>C (p.Leu76=)	MBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634700	NM_001378373.1(MBL2):c.218dup (p.Gly74fs)	MBL2 (G74fs)	Duplication (frameshift variant)	MBL2-related disorder	GUncertain significance
Select item 2466721	NM_001378373.1(MBL2):c.212G>C (p.Gly71Ala)	MBL2 (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392211	NM_001378373.1(MBL2):c.194G>C (p.Gly65Ala)	MBL2 (G65A)	Single nucleotide variant (missense variant)	not specified	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 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 14351	NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)	MBL2 (G57E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 300151	NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)	MBL2 (T55A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 14350	NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	MBL2	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 14352	NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)	MBL2	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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