ClinVar for MedGen (Select 462088) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439814	NM_001770.6(CD19):c.24C>A (p.Phe8Leu)	CD19 (F8L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 1638553	NM_001770.6(CD19):c.1487-11C>G	CD19	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1430236	NM_001770.6(CD19):c.1035G>C (p.Gln345His)	CD19 (Q256H +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 2 +2 more	GUncertain significance
Select item 1033867	NM_001770.6(CD19):c.228G>T (p.Arg76Ser)	CD19 (R76S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 993807	NM_001770.6(CD19):c.1486+18T>A	CD19	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 3 +1 more	GBenign
Select item 973629	NM_001770.6(CD19):c.47T>C (p.Met16Thr)	CD19 (M16T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3	GLikely benign
Select item 973628	NM_001770.6(CD19):c.854T>C (p.Leu285Pro)	CD19 (L285P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888300	NM_001770.6(CD19):c.988A>G (p.Thr330Ala)	CD19 (T330A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +1 more	GUncertain significance
Select item 888299	NM_001770.6(CD19):c.846C>A (p.His282Gln)	CD19 (H282Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888298	NM_001770.6(CD19):c.788G>A (p.Arg263His)	CD19 (R263H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887031	NM_001770.6(CD19):c.687G>C (p.Glu229Asp)	CD19 (E229D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 887030	NM_001770.6(CD19):c.530G>C (p.Arg177Thr)	CD19 (R177T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 887029	NM_001770.6(CD19):c.488G>A (p.Arg163His)	CD19 (R163H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886095	NM_001770.6(CD19):c.*204A>G	CD19	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 886037	NM_001770.6(CD19):c.323A>C (p.Gln108Pro)	CD19 (Q108P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886036	NM_001770.6(CD19):c.246T>C (p.Leu82=)	CD19	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 885194	NM_001770.6(CD19):c.*65A>G	CD19	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 885193	NM_001770.6(CD19):c.1469G>A (p.Arg490Gln)	CD19 (R490Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +1 more	GUncertain significance
Select item 885125	NM_001770.6(CD19):c.61G>C (p.Glu21Gln)	CD19 (E21Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 827973	NM_001770.6(CD19):c.178C>T (p.Pro60Ser)	CD19 (P60S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +1 more	GUncertain significance
Select item 811565	NM_001770.6(CD19):c.1198+2T>G	CD19	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 3	GLikely pathogenic
Select item 723603	NM_001770.6(CD19):c.147G>A (p.Gln49=)	CD19	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638466	NM_001770.6(CD19):c.1042T>C (p.Tyr348His)	CD19 (Y348H +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 632247	NM_001770.6(CD19):c.1635del (p.Gly546fs)	CD19 (G547fs +1 more)	Deletion (frameshift variant +1 more)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 318823	NM_001770.6(CD19):c.*180C>T	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318822	NM_001770.6(CD19):c.*151G>A	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318817	NM_001770.6(CD19):c.*100T>C	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318816	NM_001770.6(CD19):c.*71C>T	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318815	NM_001770.6(CD19):c.*37A>G	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318814	NM_001770.6(CD19):c.*11G>A	CD19	Single nucleotide variant (3 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318813	NM_001770.6(CD19):c.1580-4C>A	CD19	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318812	NM_001770.6(CD19):c.1580-14C>T	CD19	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 318811	NM_001770.6(CD19):c.1541G>A (p.Arg514His)	CD19 (R514H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +2 more	GBenign
Select item 318810	NM_001770.6(CD19):c.1371C>T (p.Asn457=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318809	NM_001770.6(CD19):c.1311C>T (p.Ser437=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 318808	NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)	CD19 (S425F +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 318807	NM_001770.6(CD19):c.1204G>A (p.Glu402Lys)	CD19 (E402K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 318806	NM_001770.6(CD19):c.836-13C>G	CD19	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318805	NM_001770.6(CD19):c.705G>T (p.Pro235=)	CD19	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 3 +2 more	GBenign
Select item 318804	NM_001770.6(CD19):c.527C>T (p.Pro176Leu)	CD19 (P176L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3 +2 more	GUncertain significance
Select item 318803	NM_001770.6(CD19):c.520C>G (p.Leu174Val)	CD19 (L174V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 3 +2 more	GBenign
Select item 318802	NM_001770.6(CD19):c.406C>T (p.Leu136=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 318801	NM_001770.6(CD19):c.395T>G (p.Leu132Arg)	CD19 (L132R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 318800	NM_001770.6(CD19):c.390T>A (p.Gly130=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318799	NM_001770.6(CD19):c.384C>T (p.Asp128=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318798	NM_001770.6(CD19):c.381G>A (p.Ser127=)	CD19	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 318797	NM_001770.6(CD19):c.171G>A (p.Pro57=)	CD19	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency, common variable, 3 +1 more	GConflicting classifications of pathogenicity
Select item 318796	NM_001770.6(CD19):c.17T>G (p.Leu6Arg)	CD19 (L6R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 318795	NM_001770.6(CD19):c.-16G>A	CD19	Single nucleotide variant (5 prime UTR variant +1 more)	Immunodeficiency, common variable, 3	GUncertain significance
Select item 254197	NM_001770.5(CD19):c.1653_*9delins23	CD19	Indel	Immunodeficiency, common variable, 3	GPathogenic
Select item 254196	NM_001770.6(CD19):c.1464del (p.Ser489fs)	CD19 (S489fs +1 more)	Deletion (frameshift variant +1 more)	Immunodeficiency, common variable, 3	GPathogenic
Select item 254195	NM_001770.6(CD19):c.156G>C (p.Trp52Cys)	CD19 (W52C)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency, common variable, 3	GPathogenic
Select item 254194	NM_001770.6(CD19):c.947-1G>T	CD19	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 3	GPathogenic
Select item 235527	NM_001770.6(CD19):c.835+3A>G	CD19	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 18055	NM_001770.6(CD19):c.1386_1387del (p.Asn463fs)	CD19 (N374fs +1 more)	Microsatellite (frameshift variant +1 more)	Immunodeficiency, common variable, 3	GPathogenic
Select item 18054	NM_001770.6(CD19):c.971dup (p.Arg325fs)	CD19 (R236fs +1 more)	Duplication (frameshift variant +1 more)	Immunodeficiency, common variable, 3	GPathogenic

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Items: 56