ClinVar for MedGen (Select 347128) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245199	NC_000009.11:g.(?_139264852)_(139265707_?)del	CARD9	Deletion	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely pathogenic
Select item 3245198	NC_000009.11:g.(?_139258754)_(139266530_?)del	CARD9	Deletion	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 3018840	NM_052813.5(CARD9):c.1434+10C>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 3018180	NM_052813.5(CARD9):c.21T>C (p.Asp7=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 3015964	NM_052813.5(CARD9):c.1101G>A (p.Leu367=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 3014202	NM_052813.5(CARD9):c.117C>T (p.Val39=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 3010195	NM_052813.5(CARD9):c.951+9_951+17delinsA	CARD9	Indel (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 3008674	NM_052813.5(CARD9):c.1357+18G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2999569	NM_052813.5(CARD9):c.323-20G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2993007	NM_052813.5(CARD9):c.303C>A (p.Arg101=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2992509	NM_052813.5(CARD9):c.969G>A (p.Glu323=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2986189	NM_052813.5(CARD9):c.627+13C>G	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2985214	NM_052813.5(CARD9):c.1173G>A (p.Lys391=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2918394	NM_052813.5(CARD9):c.15G>A (p.Glu5=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2916803	NM_052813.5(CARD9):c.1435-20G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2915900	NM_052813.5(CARD9):c.125_126delinsTT (p.Pro42Leu)	CARD9 (P42L)	Indel (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2912315	NM_052813.5(CARD9):c.1077+10C>T	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2910565	NM_052813.5(CARD9):c.1474C>A (p.Arg492=)	CARD9	Single nucleotide variant (synonymous variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2909913	NM_052813.5(CARD9):c.1269+17C>T	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2907431	NM_052813.5(CARD9):c.322+11G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2906780	NM_052813.5(CARD9):c.567G>C (p.Leu189=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2898951	NM_052813.5(CARD9):c.1224C>A (p.Ala408=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2894330	NM_052813.5(CARD9):c.1593C>T (p.Thr531=)	CARD9	Single nucleotide variant (synonymous variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2889459	NM_052813.5(CARD9):c.1530G>A (p.Lys510=)	CARD9	Single nucleotide variant (synonymous variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2884472	NM_052813.5(CARD9):c.264G>A (p.Pro88=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2877126	NM_052813.5(CARD9):c.1263C>G (p.Leu421=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2876386	NM_052813.5(CARD9):c.1088C>T (p.Thr363Met)	CARD9 (T363M)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2871709	NM_052813.5(CARD9):c.1358-1G>A	CARD9	Single nucleotide variant (splice acceptor variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely pathogenic
Select item 2868024	NM_052813.5(CARD9):c.1077+20G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2859538	NM_052813.5(CARD9):c.540G>A (p.Glu180=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2856745	NM_052813.5(CARD9):c.323-13G>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2856197	NM_052813.5(CARD9):c.1167C>G (p.Gly389=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2855700	NM_052813.5(CARD9):c.774G>A (p.Gln258=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2851080	NM_052813.5(CARD9):c.234C>T (p.Ala78=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2849085	NM_052813.5(CARD9):c.1312-7T>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2847205	NM_052813.5(CARD9):c.621G>A (p.Gln207=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2827494	NM_052813.5(CARD9):c.1149G>A (p.Lys383=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2825820	NM_052813.5(CARD9):c.54G>C (p.Arg18=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2810619	NM_052813.5(CARD9):c.1404G>A (p.Leu468=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2798412	NM_052813.5(CARD9):c.627+19G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2786320	NM_052813.5(CARD9):c.627+17dup	CARD9	Duplication (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GBenign
Select item 2779912	NM_052813.5(CARD9):c.471C>T (p.His157=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2779176	NM_052813.5(CARD9):c.205C>T (p.Gln69Ter)	CARD9 (Q69*)	Single nucleotide variant (nonsense)	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 2777257	NM_052813.5(CARD9):c.819G>A (p.Leu273=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2776248	NM_052813.5(CARD9):c.1077+20G>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2769983	NM_052813.5(CARD9):c.867G>A (p.Gln289=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2753886	NM_052813.5(CARD9):c.933C>T (p.Gly311=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2748789	NM_052813.5(CARD9):c.1224C>T (p.Ala408=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2737986	NM_052813.5(CARD9):c.1000A>T (p.Lys334Ter)	CARD9 (K334*)	Single nucleotide variant (nonsense)	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 2729419	NM_052813.5(CARD9):c.1270-10A>G	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2710166	NM_052813.5(CARD9):c.1227G>A (p.Val409=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2708086	NM_052813.5(CARD9):c.1353C>T (p.Asp451=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2707374	NM_052813.5(CARD9):c.1389G>C (p.Gln463His)	CARD9 (Q463H)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2707373	NM_052813.5(CARD9):c.1395T>G (p.Phe465Leu)	CARD9 (F465L)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2696946	NM_052813.5(CARD9):c.198C>T (p.Asp66=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2696659	NM_052813.5(CARD9):c.1461G>A (p.Pro487=)	CARD9	Single nucleotide variant (synonymous variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2427140	NC_000009.11:g.(?_139258754)_(139325589_?)dup	CARD9, ENTR1 +3 more	Duplication	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2417489	NM_052813.5(CARD9):c.1144C>T (p.Arg382Cys)	CARD9 (R382C)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2416800	NM_052813.5(CARD9):c.237C>T (p.Phe79=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2415009	NM_052813.5(CARD9):c.185-16C>T	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2414980	NM_052813.5(CARD9):c.302G>A (p.Arg101His)	CARD9 (R101H)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2202003	NM_052813.5(CARD9):c.951+20G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2197069	NM_052813.5(CARD9):c.627+17C>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2196847	NM_052813.5(CARD9):c.1085C>T (p.Ala362Val)	CARD9 (A362V)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2193996	NM_052813.5(CARD9):c.570G>A (p.Ala190=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2191706	NM_052813.5(CARD9):c.184+18G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2188162	NM_052813.5(CARD9):c.1250A>T (p.Gln417Leu)	CARD9 (Q417L)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2187951	NM_052813.5(CARD9):c.662A>G (p.Glu221Gly)	CARD9 (E221G)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency +1 more	GUncertain significance
Select item 2182479	NM_052813.5(CARD9):c.1598C>T (p.Thr533Ile)	CARD9 (T533I)	Single nucleotide variant (missense variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2182353	NM_052813.5(CARD9):c.807+12G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2179651	NM_052813.5(CARD9):c.1590C>T (p.Asn530=)	CARD9	Single nucleotide variant (synonymous variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2174787	NM_052813.5(CARD9):c.1435-6C>T	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2172784	NM_052813.5(CARD9):c.405G>A (p.Ala135=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2166961	NM_052813.5(CARD9):c.858C>T (p.Asp286=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2156957	NM_052813.5(CARD9):c.1270-16T>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2156359	NM_052813.5(CARD9):c.951+15G>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2154600	NM_052813.5(CARD9):c.951+15G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2151590	NM_052813.5(CARD9):c.807+9G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2143178	NM_052813.5(CARD9):c.1551G>C (p.Gln517His)	CARD9 (Q517H)	Single nucleotide variant (missense variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2140376	NM_052813.5(CARD9):c.1410G>A (p.Gln470=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2136996	NM_052813.5(CARD9):c.802G>A (p.Val268Ile)	CARD9 (V268I)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2135129	NM_052813.5(CARD9):c.1561G>C (p.Asp521His)	CARD9 (D521H)	Single nucleotide variant (missense variant +1 more)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2129916	NM_052813.5(CARD9):c.871C>T (p.Leu291=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2129796	NM_052813.5(CARD9):c.1287T>C (p.Asp429=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2127348	NM_052813.5(CARD9):c.559A>G (p.Met187Val)	CARD9 (M187V)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2125658	NM_052813.5(CARD9):c.1269+19G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2125467	NM_052813.5(CARD9):c.1138G>T (p.Ala380Ser)	CARD9 (A380S)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2123840	NM_052813.5(CARD9):c.1269+10G>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2118521	NM_052813.5(CARD9):c.992C>T (p.Ala331Val)	CARD9 (A331V)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2105002	NM_052813.5(CARD9):c.1270-5C>T	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2103982	NM_052813.5(CARD9):c.1213C>T (p.Gln405Ter)	CARD9 (Q405*)	Single nucleotide variant (nonsense)	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 2103411	NM_052813.5(CARD9):c.1512-9T>C	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2101675	NM_052813.5(CARD9):c.575del (p.Gln192fs)	CARD9 (Q192fs)	Deletion (frameshift variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 2094707	NM_052813.5(CARD9):c.1315T>G (p.Ser439Ala)	CARD9 (S439A)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2090875	NM_052813.5(CARD9):c.681G>A (p.Glu227=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2087295	NM_052813.5(CARD9):c.776C>T (p.Ala259Val)	CARD9 (A259V)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2085162	NM_052813.5(CARD9):c.1140G>A (p.Ala380=)	CARD9	Single nucleotide variant (synonymous variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2081602	NM_052813.5(CARD9):c.322+10G>A	CARD9	Single nucleotide variant (intron variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 2077194	NM_052813.5(CARD9):c.757_759del (p.Glu253del)	CARD9 (E253del)	Deletion (inframe_deletion)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 2070850	NM_052813.5(CARD9):c.569C>T (p.Ala190Val)	CARD9 (A190V)	Single nucleotide variant (missense variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance

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