ClinVar for MedGen (Select 462100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016420	NM_020070.4(IGLL1):c.306C>T (p.Thr102=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 3010865	NM_020070.4(IGLL1):c.415_418delinsAAC (p.Asp139fs)	IGLL1 (D139fs +1 more)	Indel (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2989147	NM_020070.4(IGLL1):c.519C>T (p.Tyr173=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2979429	NM_020070.4(IGLL1):c.633A>G (p.Glu211=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2968509	NM_020070.4(IGLL1):c.220C>T (p.Arg74Cys)	IGLL1 (R74C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2965789	NM_020070.4(IGLL1):c.263A>C (p.Gln88Pro)	IGLL1 (Q88P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2958564	NM_020070.4(IGLL1):c.323-20C>T	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2958345	NM_020070.4(IGLL1):c.82C>T (p.Leu28=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2920457	NM_020070.4(IGLL1):c.507CAA[2] (p.Asn171del)	IGLL1 (N171del +1 more)	Microsatellite (inframe_deletion +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2917468	NM_020070.4(IGLL1):c.266C>T (p.Ser89Phe)	IGLL1 (S89F +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2913061	NM_020070.4(IGLL1):c.595G>A (p.Glu199Lys)	IGLL1 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2911118	NM_020070.4(IGLL1):c.119G>A (p.Arg40His)	IGLL1 (R40H)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2891922	NM_020070.4(IGLL1):c.409A>G (p.Met137Val)	IGLL1 (M137V +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2885815	NM_020070.4(IGLL1):c.559A>C (p.Arg187=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2884473	NM_020070.4(IGLL1):c.284C>T (p.Thr95Met)	IGLL1 (T96M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2861241	NM_020070.4(IGLL1):c.161C>A (p.Ala54Asp)	IGLL1 (A54D)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2857229	NM_020070.4(IGLL1):c.356T>A (p.Phe119Tyr)	IGLL1 (F119Y +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2848940	NM_020070.4(IGLL1):c.163_164dup (p.Gly56fs)	IGLL1 (G56fs)	Duplication (frameshift variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2846387	NM_020070.4(IGLL1):c.489C>T (p.Thr163=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2827475	NM_020070.4(IGLL1):c.74C>A (p.Pro25His)	IGLL1 (P25H)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2826232	NM_020070.4(IGLL1):c.207-4G>T	IGLL1	Single nucleotide variant (intron variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2817031	NM_020070.4(IGLL1):c.444C>G (p.Thr148=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2792415	NM_020070.4(IGLL1):c.35C>A (p.Ala12Asp)	IGLL1 (A12D)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2779436	NM_020070.4(IGLL1):c.359C>A (p.Pro120Gln)	IGLL1 (P120Q +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2771660	NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)	IGLL1 (R40L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2766699	NM_020070.4(IGLL1):c.206G>C (p.Arg69Thr)	IGLL1 (R69T +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2741575	NM_020070.4(IGLL1):c.196C>T (p.Arg66Trp)	IGLL1 (R66W)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2739744	NM_020070.4(IGLL1):c.542T>C (p.Leu181Pro)	IGLL1 (L182P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2739614	NM_020070.4(IGLL1):c.536T>G (p.Leu179Arg)	IGLL1 (L179R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2739482	NM_020070.4(IGLL1):c.624C>T (p.Ala208=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GBenign
Select item 2733911	NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)	IGLL1 (P16S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2713681	NM_020070.4(IGLL1):c.513C>G (p.Asn171Lys)	IGLL1 (N172K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2707585	NM_020070.4(IGLL1):c.213G>A (p.Leu71=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2707126	NM_020070.4(IGLL1):c.392C>T (p.Ala131Val)	IGLL1 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2501751	NM_020070.4(IGLL1):c.521delinsAT (p.Ala174fs)	IGLL1 (A174fs +1 more)	Indel (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2426518	NC_000022.10:g.(?_23915453)_(23915792_?)dup	IGLL1	Duplication	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2192035	NM_020070.4(IGLL1):c.560G>A (p.Arg187Lys)	IGLL1 (R188K +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2173503	NM_020070.4(IGLL1):c.272A>G (p.His91Arg)	IGLL1 (H91R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2166215	NM_020070.4(IGLL1):c.5G>A (p.Arg2Lys)	IGLL1 (R2K)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2158161	NM_020070.4(IGLL1):c.267C>T (p.Ser89=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2156375	NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)	IGLL1 (T165M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2155650	NM_020070.4(IGLL1):c.180G>A (p.Arg60=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2144183	NM_020070.4(IGLL1):c.196C>G (p.Arg66Gly)	IGLL1 (R66G)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2132714	NM_020070.4(IGLL1):c.584A>G (p.Gln195Arg)	IGLL1 (Q195R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2122207	NM_020070.4(IGLL1):c.252C>T (p.Pro84=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2121956	NM_020070.4(IGLL1):c.123A>G (p.Pro41=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2112409	NM_020070.4(IGLL1):c.515A>G (p.Lys172Arg)	IGLL1 (K172R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2085723	NM_020070.4(IGLL1):c.102A>G (p.Val34=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2072604	NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)	IGLL1 (H96Y +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2057233	NM_020070.4(IGLL1):c.179G>A (p.Arg60Gln)	IGLL1 (R60Q)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2053155	NM_020070.4(IGLL1):c.497C>G (p.Ser166Cys)	IGLL1 (S167C +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2033940	NM_020070.4(IGLL1):c.281_284dup (p.His96fs)	IGLL1 (H96fs +1 more)	Duplication (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2031043	NM_020070.4(IGLL1):c.551dup (p.Gln185fs)	IGLL1 (Q186fs +1 more)	Duplication (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2030850	NM_020070.4(IGLL1):c.117G>A (p.Leu39=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 2012708	NM_020070.4(IGLL1):c.55A>G (p.Asn19Asp)	IGLL1 (N19D)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2012013	NM_020070.4(IGLL1):c.207-3C>G	IGLL1 (S69R)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 2007270	NM_020070.4(IGLL1):c.321A>G (p.Leu107=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1993212	NM_020070.4(IGLL1):c.52C>T (p.Pro18Ser)	IGLL1 (P18S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1960388	NM_020070.4(IGLL1):c.606C>G (p.Thr202=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1955599	NM_020070.4(IGLL1):c.318T>C (p.Val106=)	IGLL1	Single nucleotide variant (intron variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1954845	NM_020070.4(IGLL1):c.399G>A (p.Leu133=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1912621	NM_020070.4(IGLL1):c.68G>A (p.Arg23His)	IGLL1 (R23H)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 1912382	NM_020070.4(IGLL1):c.465del (p.Ile156fs)	IGLL1 (I156fs +1 more)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1669027	NM_020070.4(IGLL1):c.323-7C>T	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1642412	NM_020070.4(IGLL1):c.322+9C>T	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1620207	NM_020070.4(IGLL1):c.285G>A (p.Thr95=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1615731	NM_020070.4(IGLL1):c.323-18C>G	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1614589	NM_020070.4(IGLL1):c.495C>T (p.Pro165=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1607081	NM_020070.4(IGLL1):c.258G>A (p.Gly86=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1583853	NM_020070.4(IGLL1):c.219G>A (p.Gln73=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1569523	NM_020070.4(IGLL1):c.322+15C>T	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1566033	NM_020070.4(IGLL1):c.210C>T (p.Phe70=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1546976	NM_020070.4(IGLL1):c.135G>A (p.Ser45=)	IGLL1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1540308	NM_020070.4(IGLL1):c.234T>C (p.Thr78=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GLikely benign
Select item 1508259	NM_020070.4(IGLL1):c.323-3C>A	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1504082	NM_020070.4(IGLL1):c.585G>T (p.Gln195His)	IGLL1 (Q195H +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1500012	NM_020070.4(IGLL1):c.322+4A>T	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1497804	NM_020070.4(IGLL1):c.236G>A (p.Gly79Asp)	IGLL1 (G79D +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1497677	NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser)	IGLL1 (T203S +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 1445521	NM_020070.4(IGLL1):c.426G>A (p.Pro142=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1442392	NC_000022.10:g.(?_23915453)_(24237293_?)del	C22orf15, MIF +10 more	Deletion	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1440008	NC_000022.10:g.(?_23917134)_(23922377_?)del	IGLL1	Deletion	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1437937	NM_020070.4(IGLL1):c.206+3A>G	IGLL1	Single nucleotide variant (intron variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1435654	NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro)	IGLL1 (S123P +2 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1426980	NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn)	IGLL1 (S108N +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1414307	NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu)	IGLL1 (W150L +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive +1 more	GUncertain significance
Select item 1406471	NM_020070.4(IGLL1):c.379del (p.Gln127fs)	IGLL1 (Q128fs +1 more)	Deletion (frameshift variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1397988	NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro)	IGLL1 (T78P +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1395050	NM_020070.4(IGLL1):c.477C>T (p.Gly159=)	IGLL1	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1393015	NM_020070.4(IGLL1):c.608T>C (p.Val203Ala)	IGLL1 (V204A +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1391863	NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu)	IGLL1 (S45L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1387818	NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg)	IGLL1 (T5R)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1376935	NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly)	IGLL1 (R82G +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1376930	NM_020070.4(IGLL1):c.545C>T (p.Thr182Met)	IGLL1 (T183M +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1373710	NM_020070.4(IGLL1):c.149T>C (p.Leu50Pro)	IGLL1 (L50P)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1372169	NM_020070.4(IGLL1):c.161_169dup (p.Ala54_Gly56dup)	IGLL1	Duplication (inframe_insertion)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1363505	NM_020070.4(IGLL1):c.590T>G (p.Met197Arg)	IGLL1 (M197R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1359833	NM_020070.4(IGLL1):c.26dup (p.Leu10fs)	IGLL1 (L10fs)	Duplication (frameshift variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1356613	NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp)	IGLL1 (A112D +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance
Select item 1355401	NM_020070.4(IGLL1):c.203G>A (p.Gly68Asp)	IGLL1 (G68D)	Single nucleotide variant (missense variant)	Agammaglobulinemia 2, autosomal recessive	GUncertain significance

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