ClinVar for MedGen (Select 409751) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248457	NC_000019.9:g.(?_10469831)_(10469998_?)del	TYK2	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3065472	NM_003331.5(TYK2):c.193+1G>A	TYK2	Single nucleotide variant (splice donor variant)	Immunodeficiency 35	GLikely pathogenic
Select item 3064089	NM_003331.5(TYK2):c.2466+1G>T	TYK2 (V823L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GLikely pathogenic
Select item 3021493	NM_003331.5(TYK2):c.630-6C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 3021409	NM_003331.5(TYK2):c.193+13C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 3019817	NM_003331.5(TYK2):c.647C>T (p.Pro216Leu)	TYK2 (P216L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 3018482	NM_003331.5(TYK2):c.1191G>A (p.Arg397=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 3009159	NM_003331.5(TYK2):c.2868C>T (p.His956=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 3002298	NM_003331.5(TYK2):c.3201-6C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 3000661	NM_003331.5(TYK2):c.3429+7C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2996129	NM_003331.5(TYK2):c.2715+11G>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2995932	NM_003331.5(TYK2):c.2908+17G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2992248	NM_003331.5(TYK2):c.2048-10G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2974814	NM_003331.5(TYK2):c.1011+2T>G	TYK2	Single nucleotide variant (splice donor variant)	Immunodeficiency 35	GLikely pathogenic
Select item 2973630	NM_003331.5(TYK2):c.1960-18C>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2973477	NM_003331.5(TYK2):c.2028C>T (p.Val676=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2973431	NM_003331.5(TYK2):c.2133G>A (p.Lys711=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2971918	NM_003331.5(TYK2):c.1825C>T (p.Arg609Ter)	TYK2 (R579* +4 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 35	GPathogenic
Select item 2962608	NM_003331.5(TYK2):c.561C>T (p.Ala187=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2958071	NM_003331.5(TYK2):c.675G>A (p.Gln225=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2915374	NM_003331.5(TYK2):c.1897C>T (p.Arg633Cys)	TYK2 (R567C +5 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 2912535	NM_003331.5(TYK2):c.2166C>T (p.Leu722=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2912526	NM_003331.5(TYK2):c.3075C>T (p.Ala1025=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2912204	NM_003331.5(TYK2):c.2931C>T (p.Val977=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2912013	NM_003331.5(TYK2):c.2908+7G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2911814	NM_003331.5(TYK2):c.463C>T (p.Gln155Ter)	TYK2 (Q155*)	Single nucleotide variant (nonsense)	Immunodeficiency 35	GPathogenic
Select item 2911641	NM_003331.5(TYK2):c.2886C>T (p.Tyr962=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2909055	NM_003331.5(TYK2):c.2467-16G>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2906277	NM_003331.5(TYK2):c.507G>A (p.Glu169=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2897748	NM_003331.5(TYK2):c.603C>T (p.Pro201=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2891202	NM_003331.5(TYK2):c.600C>A (p.Ile200=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2860565	NM_003331.5(TYK2):c.630-11T>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2855623	NM_003331.5(TYK2):c.2008C>T (p.Leu670=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2844982	NM_003331.5(TYK2):c.1670-7C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2841366	NM_003331.5(TYK2):c.1392G>A (p.Leu464=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2836663	NM_003331.5(TYK2):c.1960-12dup	TYK2	Duplication (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2832580	NM_003331.5(TYK2):c.422T>C (p.Met141Thr)	TYK2 (M141T)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2831600	NM_003331.5(TYK2):c.273A>G (p.Leu91=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2829607	NM_003331.5(TYK2):c.3201-11C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2813589	NM_003331.5(TYK2):c.1815G>A (p.Glu605=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2813509	NM_003331.5(TYK2):c.2047+15C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2812125	NM_003331.5(TYK2):c.2991G>A (p.Leu997=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2811395	NM_003331.5(TYK2):c.589C>G (p.Arg197Gly)	TYK2 (R197G)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2805400	NM_003331.5(TYK2):c.3563G>A (p.Ter1188=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2804440	NM_003331.5(TYK2):c.510G>C (p.Leu170=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2803110	NM_003331.5(TYK2):c.519G>A (p.Glu173=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2802671	NM_003331.5(TYK2):c.3192C>T (p.Pro1064=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2802439	NM_003331.5(TYK2):c.630-9T>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2796179	NM_003331.5(TYK2):c.1464C>G (p.Ala488=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2793241	NM_003331.5(TYK2):c.1477-19C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2793239	NM_003331.5(TYK2):c.2715+9C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2790844	NM_003331.5(TYK2):c.3318+5G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 2790427	NM_003331.5(TYK2):c.193+13del	TYK2	Deletion (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2790191	NM_003331.5(TYK2):c.1818C>T (p.Gly606=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2782758	NM_003331.5(TYK2):c.3558G>T (p.Val1186=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2771611	NM_003331.5(TYK2):c.501G>A (p.Leu167=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2771395	NM_003331.5(TYK2):c.2957T>C (p.Leu986Pro)	TYK2 (L1056P +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2770765	NM_003331.5(TYK2):c.194-20T>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2765716	NM_003331.5(TYK2):c.78A>G (p.Gly26=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2764448	NM_003331.5(TYK2):c.424C>T (p.Gln142Ter)	TYK2 (Q142*)	Single nucleotide variant (nonsense)	Immunodeficiency 35	GPathogenic
Select item 2761990	NM_003331.5(TYK2):c.2920_2941del (p.Leu974fs)	TYK2 (L1044fs +9 more)	Deletion (frameshift variant)	Immunodeficiency 35	GPathogenic
Select item 2747792	NM_003331.5(TYK2):c.918G>A (p.Glu306=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2745757	NM_003331.5(TYK2):c.2909-10_2909-9del	TYK2	Microsatellite (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2743297	NM_003331.5(TYK2):c.2553T>C (p.Tyr851=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2741800	NM_003331.5(TYK2):c.2176-7A>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2740900	NM_003331.5(TYK2):c.2715+10G>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2739687	NM_003331.5(TYK2):c.1904dup (p.Glu636fs)	TYK2 (E636fs +5 more)	Duplication (frameshift variant +1 more)	Immunodeficiency 35	GPathogenic
Select item 2738322	NM_003331.5(TYK2):c.579C>T (p.His193=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2738027	NM_003331.5(TYK2):c.2646G>A (p.Pro882=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2736631	NM_003331.5(TYK2):c.1086C>T (p.Val362=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2732242	NM_003331.5(TYK2):c.1959+10C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2729099	NM_003331.5(TYK2):c.194-18G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2726220	NM_003331.5(TYK2):c.654C>A (p.Ser218=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2724176	NM_003331.5(TYK2):c.3028-20G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2717612	NM_003331.5(TYK2):c.2343C>T (p.Pro781=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2716201	NM_003331.5(TYK2):c.1248C>T (p.Phe416=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2710719	NM_003331.5(TYK2):c.2517A>G (p.Pro839=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2710520	NM_003331.5(TYK2):c.3429+7C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2707452	NM_003331.5(TYK2):c.627C>A (p.Thr209=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2704548	NM_003331.5(TYK2):c.2488C>T (p.Gln830Ter)	TYK2 (Q800* +8 more)	Single nucleotide variant (nonsense)	Immunodeficiency 35	GPathogenic
Select item 2701950	NM_003331.5(TYK2):c.1477-12A>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2701324	NM_003331.5(TYK2):c.629+2T>C	TYK2	Single nucleotide variant (splice donor variant)	Immunodeficiency 35	GLikely pathogenic
Select item 2694975	NM_003331.5(TYK2):c.693G>T (p.Arg231=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 2500107	NM_003331.5(TYK2):c.3331C>T (p.Leu1111Phe)	TYK2 (L1045F +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 2438451	NM_003331.5(TYK2):c.789C>T (p.Leu263=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 2438450	NM_003331.5(TYK2):c.2228C>T (p.Ala743Val)	TYK2 (A677V +6 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2425736	NM_003331.5(TYK2):c.1367+14G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2418506	NM_003331.5(TYK2):c.2569C>T (p.Pro857Ser)	TYK2 (P791S +8 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2415917	NM_003331.5(TYK2):c.2445G>A (p.Leu815=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2414136	NM_003331.5(TYK2):c.2047+13C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2201072	NM_003331.5(TYK2):c.655T>C (p.Phe219Leu)	TYK2 (F219L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 2200350	NM_003331.5(TYK2):c.2716-12G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2198249	NM_003331.5(TYK2):c.2664C>G (p.Asp888Glu)	TYK2 (D822E +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2197875	NM_003331.5(TYK2):c.2016C>T (p.Phe672=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2196632	NM_003331.5(TYK2):c.3486C>T (p.Phe1162=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 2195696	NM_003331.5(TYK2):c.3430-20G>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2195196	NM_003331.5(TYK2):c.2448G>C (p.Gln816His)	TYK2 (Q750H +6 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2194211	NM_003331.5(TYK2):c.1960-11G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance

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