22900[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2797229	NM_001184900.3(CARD8):c.1592A>G (p.Tyr531Cys)	CARD8 (Y256C +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1515222	NM_001184900.3(CARD8):c.1585G>A (p.Val529Met)	CARD8 (V479M +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1656369	NM_001184900.3(CARD8):c.1584C>T (p.Leu528=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3021197	NM_001184900.3(CARD8):c.1556G>T (p.Arg519Ile)	CARD8 (R407I +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1116126	NM_001184900.3(CARD8):c.1549C>G (p.Leu517Val)	CARD8 (L405V +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3000905	NM_001184900.3(CARD8):c.1546G>A (p.Val516Met)	CARD8 (V466M +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2170902	NM_001184900.3(CARD8):c.1545C>G (p.Asp515Glu)	CARD8 (D515E +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1168809	NM_001184900.3(CARD8):c.1545C>T (p.Asp515=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 1965150	NM_001184900.3(CARD8):c.1540C>T (p.Leu514=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2969793	NM_001184900.3(CARD8):c.1502C>A (p.Ala501Asp)	CARD8 (A396D +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2419531	NM_001184900.3(CARD8):c.1496A>G (p.Asn499Ser)	CARD8 (N387S +4 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2867756	NM_001184900.3(CARD8):c.1493A>G (p.Lys498Arg)	CARD8 (K393R +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1401943	NM_001184900.3(CARD8):c.1484G>A (p.Arg495Gln)	CARD8 (R495Q +4 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1429127	NM_001184900.3(CARD8):c.1483C>T (p.Arg495Trp)	CARD8 (R390W +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2994801	NM_001184900.3(CARD8):c.1476A>G (p.Glu492=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2870042	NM_001184900.3(CARD8):c.1474G>T (p.Glu492Ter)	CARD8 (E386* +5 more)	Single nucleotide variant (nonsense +3 more)	not provided	GUncertain significance
Select item 2316224	NM_001184900.3(CARD8):c.1468G>A (p.Glu490Lys)	CARD8 (E378K +4 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1494804	NM_001184900.3(CARD8):c.1459_1460delinsTT (p.Glu487Leu)	CARD8 (E382L +4 more)	Indel (missense variant +3 more)	not provided	GUncertain significance
Select item 1417439	NM_001184900.3(CARD8):c.1440_1443dup (p.Thr482fs)	CARD8 (T370fs +4 more)	Duplication (frameshift variant +3 more)	not provided	GUncertain significance
Select item 2714157	NM_001184900.3(CARD8):c.1438G>C (p.Val480Leu)	CARD8 (V375L +5 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1168810	NM_001184900.3(CARD8):c.1428A>G (p.Gln476=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2970144	NM_001184900.3(CARD8):c.1423C>T (p.Leu475Phe)	CARD8 (L200F +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 782653	NM_001184900.3(CARD8):c.1416C>T (p.Leu472=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 1651275	NM_001184900.3(CARD8):c.1410G>C (p.Gly470=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3137344	NM_001184900.3(CARD8):c.1391G>T (p.Arg464Met)	CARD8 (R189M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1169236	NM_001184900.3(CARD8):c.1385A>G (p.Gln462Arg)	CARD8 (Q350R +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2145577	NM_001184900.3(CARD8):c.1376G>A (p.Arg459Gln)	CARD8 (R353Q +4 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1446292	NM_001184900.3(CARD8):c.1375C>T (p.Arg459Trp)	CARD8 (R353W +4 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1982196	NM_001184900.3(CARD8):c.1374C>T (p.His458=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2788418	NM_001184900.3(CARD8):c.1368G>C (p.Glu456Asp)	CARD8 (E350D +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2326961	NM_001184900.3(CARD8):c.1367A>G (p.Glu456Gly)	CARD8 (E351G +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2995975	NM_001184900.3(CARD8):c.1360G>A (p.Val454Met)	CARD8 (V179M +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1552562	NM_001184900.3(CARD8):c.1359T>C (p.Phe453=)	CARD8	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2831540	NM_001184900.3(CARD8):c.1349G>T (p.Gly450Val)	CARD8 (G175V +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1648609	NM_001184900.3(CARD8):c.1349-6A>G	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947184	NM_001184900.3(CARD8):c.1348+9A>G	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851437	NM_001184900.3(CARD8):c.1348+2dup	CARD8	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2983092	NM_001184900.3(CARD8):c.1346C>T (p.Ser449Leu)	CARD8 (S449L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2071261	NM_001184900.3(CARD8):c.1334C>T (p.Pro445Leu)	CARD8 (P339L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1419999	NM_001184900.3(CARD8):c.1324G>C (p.Ala442Pro)	CARD8 (A330P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1716833	NM_001184900.3(CARD8):c.1318G>A (p.Val440Ile)	CARD8 (V328I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1640994	NM_001184900.3(CARD8):c.1304-9C>T	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973188	NM_001184900.3(CARD8):c.1304-11C>T	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631822	NM_001184900.3(CARD8):c.1304-14dup	CARD8	Duplication (intron variant)	not provided	GLikely benign
Select item 2809756	NM_001184900.3(CARD8):c.1304-14del	CARD8	Deletion (intron variant)	not provided	GBenign
Select item 1558144	NM_001184900.3(CARD8):c.1304-19A>T	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637691	NM_001184900.3(CARD8):c.1303+16A>C	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656525	NM_001184900.3(CARD8):c.1303+15G>A	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673367	NM_001184900.3(CARD8):c.1303+14C>T	CARD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1439990	NM_001184900.3(CARD8):c.1303+2T>G	CARD8	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2026174	NM_001184900.3(CARD8):c.1290T>C (p.Thr430=)	CARD8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2707166	NM_001184900.3(CARD8):c.1288A>G (p.Thr430Ala)	CARD8 (T318A +5 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1490400	NM_001184900.3(CARD8):c.1276T>A (p.Leu426Met)	CARD8 (L314M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2881654	NM_001184900.3(CARD8):c.1262A>G (p.Lys421Arg)	CARD8 (K309R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2092801	NM_001184900.3(CARD8):c.1256C>A (p.Thr419Asn)	CARD8 (T313N +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1168811	NM_001184900.3(CARD8):c.1251G>A (p.Glu417=)	CARD8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2829221	NM_001184900.3(CARD8):c.1245A>C (p.Gln415His)	CARD8 (Q309H +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 999304	NM_001184900.3(CARD8):c.1245A>T (p.Gln415His)	CARD8 (Q303H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1910511	NM_001184900.3(CARD8):c.1236A>T (p.Glu412Asp)	CARD8 (E300D +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1576874	NM_001184900.3(CARD8):c.1227G>A (p.Gln409=)	CARD8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2054670	NM_001184900.3(CARD8):c.1217A>G (p.Tyr406Cys)	CARD8 (Y294C +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2115235	NM_001184900.3(CARD8):c.1188T>C (p.Pro396=)	CARD8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1633217	NM_001184900.3(CARD8):c.1164G>C (p.Glu388Asp)	CARD8 (E276D +4 more)	Single nucleotide variant (missense variant +2 more)	CARD8-related disorder +1 more	GLikely benign
Select item 2095080	NM_001184900.3(CARD8):c.1162-4C>T	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019569	NM_001184900.3(CARD8):c.1162-11G>A	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530798	NM_001184900.3(CARD8):c.1162-13G>A	CARD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168931	NM_001184900.3(CARD8):c.1162-18C>T	CARD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1486184	NM_001184900.3(CARD8):c.1161+5G>A	CARD8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1598237	NM_001184900.3(CARD8):c.1161+1G>T	CARD8	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2990635	NM_001184900.3(CARD8):c.1161G>T (p.Lys387Asn)	CARD8 (K112N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1145399	NM_001184900.3(CARD8):c.1157C>T (p.Pro386Leu)	CARD8 (P274L +5 more)	Single nucleotide variant (missense variant +1 more)	CARD8-related disorder +1 more	GLikely benign
Select item 1355627	NM_001184900.3(CARD8):c.1149A>G (p.Lys383=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1624160	NM_001184900.3(CARD8):c.1122T>C (p.Tyr374=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2829165	NM_001184900.3(CARD8):c.1116del (p.Ser373fs)	CARD8 (S268fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1618673	NM_001184900.3(CARD8):c.1110T>C (p.Phe370=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2006791	NM_001184900.3(CARD8):c.1099C>A (p.Pro367Thr)	CARD8 (P255T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392240	NM_001184900.3(CARD8):c.1094T>G (p.Met365Arg)	CARD8 (M259R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1420682	NM_001184900.3(CARD8):c.1093A>G (p.Met365Val)	CARD8 (M260V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921995	NM_001184900.3(CARD8):c.1086G>T (p.Ser362=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 707834	NM_001184900.3(CARD8):c.1086G>A (p.Ser362=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2420235	NM_001184900.3(CARD8):c.1085C>T (p.Ser362Leu)	CARD8 (S250L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988246	NM_001184900.3(CARD8):c.1075C>T (p.Leu359=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015328	NM_001184900.3(CARD8):c.1073G>A (p.Arg358His)	CARD8 (R83H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185386	NM_001184900.3(CARD8):c.1072C>T (p.Arg358Cys)	CARD8 (R246C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1929077	NM_001184900.3(CARD8):c.1069G>T (p.Val357Leu)	CARD8 (V252L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165917	NM_001184900.3(CARD8):c.1066G>C (p.Gly356Arg)	CARD8 (G244R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2409418	NM_001184900.3(CARD8):c.1062C>G (p.Phe354Leu)	CARD8 (F248L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2828947	NM_001184900.3(CARD8):c.1059C>T (p.Arg353=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1426333	NM_001184900.3(CARD8):c.1058G>A (p.Arg353His)	CARD8 (R247H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176873	NM_001184900.3(CARD8):c.1057C>T (p.Arg353Cys)	CARD8 (R248C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349335	NM_001184900.3(CARD8):c.1057C>G (p.Arg353Gly)	CARD8 (R241G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061417	NM_001184900.3(CARD8):c.1048G>A (p.Glu350Lys)	CARD8 (E238K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998789	NM_001184900.3(CARD8):c.1047T>A (p.Asp349Glu)	CARD8 (D74E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862306	NM_001184900.3(CARD8):c.1040T>C (p.Ile347Thr)	CARD8 (I241T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1619670	NM_001184900.3(CARD8):c.1038G>A (p.Ala346=)	CARD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934511	NM_001184900.3(CARD8):c.1037C>T (p.Ala346Val)	CARD8 (A234V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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