3586[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 1050638	NC_000001.11:g.206762855CTTTC[9]	IL10	Microsatellite	not provided	GUncertain significance
Select item 1050124	NC_000001.11:g.206762855CTTTC[10]	IL10	Microsatellite	not provided	GUncertain significance
Select item 2628225	NM_000572.3(IL10):c.*117T>C	IL10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 1952412	NM_000572.3(IL10):c.534C>A (p.Asn178Lys)	IL10 (N178K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1349359	NM_000572.3(IL10):c.534C>G (p.Asn178Lys)	IL10 (N178K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 970779	NM_000572.3(IL10):c.530G>A (p.Arg177Gln)	IL10 (R177Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1917191	NM_000572.3(IL10):c.529C>T (p.Arg177Ter)	IL10 (R92* +1 more)	Single nucleotide variant (nonsense +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1488399	NM_000572.3(IL10):c.521T>C (p.Met174Thr)	IL10 (M89T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 662170	NM_000572.3(IL10):c.514A>G (p.Met172Val)	IL10 (M172V)	Single nucleotide variant (missense variant)	Inflammatory bowel disease	GUncertain significance
Select item 795622	NM_000572.3(IL10):c.513C>T (p.Tyr171=)	IL10	Single nucleotide variant (synonymous variant)	Inflammatory bowel disease	GLikely benign
Select item 1578342	NM_000572.3(IL10):c.510C>T (p.Ala170=)	IL10	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 939398	NM_000572.3(IL10):c.507A>C (p.Glu169Asp)	IL10 (E84D +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1999433	NM_000572.3(IL10):c.503T>A (p.Ile168Lys)	IL10 (I168K +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1422156	NM_000572.3(IL10):c.502A>G (p.Ile168Val)	IL10 (I83V +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 2758641	NM_000572.3(IL10):c.471C>T (p.Ala157=)	IL10	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 1106466	NM_000572.3(IL10):c.471C>A (p.Ala157=)	IL10	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 2796283	NM_000572.3(IL10):c.445-8C>T	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 3001149	NM_000572.3(IL10):c.444+20G>A	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 3020948	NM_000572.3(IL10):c.444+17G>A	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1970245	NM_000572.3(IL10):c.444+8T>C	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1446386	NM_000572.3(IL10):c.444+6C>T	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GUncertain significance
Select item 2000975	NM_000572.3(IL10):c.443A>G (p.Lys148Arg)	IL10 (K148R +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1409149	NM_000572.3(IL10):c.434C>T (p.Ala145Val)	IL10 (A60V +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1715483	NM_000572.3(IL10):c.424G>C (p.Val142Leu)	IL10 (V142L +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1982839	NM_000572.3(IL10):c.414C>G (p.Ala138=)	IL10	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 1117791	NM_000572.3(IL10):c.393C>T (p.Pro131=)	IL10	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 2202923	NM_000572.3(IL10):c.386T>A (p.Phe129Tyr)	IL10 (F129Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1369972	NM_000572.3(IL10):c.383G>A (p.Arg128Gln)	IL10 (R43Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 949531	NM_000572.3(IL10):c.383G>T (p.Arg128Leu)	IL10 (R43L +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1531909	NM_000572.3(IL10):c.379-10del	IL10	Deletion (intron variant)	Inflammatory bowel disease	GBenign
Select item 2960461	NM_000572.3(IL10):c.379-16C>T	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 2991295	NM_000572.3(IL10):c.379-17T>C	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1594351	NM_000572.3(IL10):c.379-19T>G	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 2628140	NM_000572.3(IL10):c.379-112A>G	IL10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1165022	NM_000572.3(IL10):c.378+284G>T	IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GBenign
Select item 1568337	NM_153758.5(IL19):c.-340_-339delinsGG	IL10, IL19	Indel (5 prime UTR variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 1166834	NM_153758.5(IL19):c.-339A>G	IL10, IL19	Single nucleotide variant (intron variant +1 more)	Inflammatory bowel disease +1 more	GBenign
Select item 2808342	NM_153758.5(IL19):c.-336C>G	IL10, IL19	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 2787055	NM_153758.5(IL19):c.-335T>G	IL10, IL19	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease	GLikely benign
Select item 2078691	NM_153758.5(IL19):c.-326A>G	IL10, IL19	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease	GUncertain significance
Select item 1144455	NM_000572.3(IL10):c.375C>A (p.Arg125=)	IL10, IL19	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1482256	NM_000572.3(IL10):c.374G>T (p.Arg125Leu)	IL10, IL19 (R125L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1420500	NM_000572.3(IL10):c.374G>A (p.Arg125His)	IL10, IL19 (R125H +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 2044601	NM_000572.3(IL10):c.372G>A (p.Arg124=)	IL10, IL19	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1432945	NM_000572.3(IL10):c.371G>A (p.Arg124Gln)	IL10, IL19 (R124Q +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1011995	NM_000572.3(IL10):c.370C>T (p.Arg124Trp)	IL10, IL19 (R124W +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +1 more	GUncertain significance
Select item 1025334	NM_000572.3(IL10):c.365G>A (p.Arg122Lys)	IL10, IL19 (R122K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 2103299	NM_000572.3(IL10):c.361C>T (p.Leu121=)	IL10, IL19	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 745482	NM_000572.3(IL10):c.345C>T (p.Asn115=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1005651	NM_000572.3(IL10):c.343A>T (p.Asn115Tyr)	IL10, IL19 +1 more (N115Y +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 757750	NM_000572.3(IL10):c.336G>C (p.Leu112=)	IL19, LOC129932369 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1298449	NM_000572.3(IL10):c.334C>T (p.Leu112=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease +1 more	GLikely benign
Select item 1004415	NM_000572.3(IL10):c.332C>T (p.Ser111Phe)	IL10, IL19 +1 more (S111F +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1907986	NM_000572.3(IL10):c.327G>A (p.Val109=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1525940	NM_000572.3(IL10):c.323A>G (p.His108Arg)	IL10, IL19 +1 more (H108R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1107004	NM_000572.3(IL10):c.321G>A (p.Ala107=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1716474	NM_000572.3(IL10):c.320C>A (p.Ala107Glu)	IL10, IL19 +1 more (A107E +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1399178	NM_000572.3(IL10):c.320C>T (p.Ala107Val)	IL10, IL19 +1 more (A107V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1056748	NM_000572.3(IL10):c.314T>G (p.Ile105Ser)	IL10, IL19 +1 more (I105S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1086791	NM_000572.3(IL10):c.309A>G (p.Pro103=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1441711	NM_000572.3(IL10):c.301C>A (p.Gln101Lys)	IL10, IL19 +1 more (Q101K +1 more)	Single nucleotide variant (missense variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1086136	NM_000572.3(IL10):c.297G>A (p.Glu99=)	LOC129932369, IL10 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1095429	NM_000572.3(IL10):c.276G>A (p.Glu92=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 956183	NM_000572.3(IL10):c.274G>A (p.Glu92Lys)	IL10, IL19 +1 more (E7K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 1641485	NM_000572.3(IL10):c.273G>A (p.Leu91=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1926667	NM_000572.3(IL10):c.261C>T (p.Ile87=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 2112161	NM_000572.3(IL10):c.257T>A (p.Met86Lys)	IL10, IL19 +1 more (M1K +1 more)	Single nucleotide variant (missense variant +4 more)	Inflammatory bowel disease	GUncertain significance
Select item 1150550	NM_000572.3(IL10):c.255G>A (p.Glu85=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1899952	NM_000572.3(IL10):c.252T>G (p.Ser84=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1495514	NM_000572.3(IL10):c.241C>A (p.Gln81Lys)	IL19, IL10 +1 more (Q81K)	Single nucleotide variant (intron variant +3 more)	Inflammatory bowel disease	GUncertain significance
Select item 756187	NM_000572.3(IL10):c.228T>C (p.Gly76=)	IL10, IL19 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	Inflammatory bowel disease	GLikely benign
Select item 1166835	NM_153758.5(IL19):c.-149+222T>C	IL10, IL19	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2748293	NM_153758.5(IL19):c.-149+258C>T	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1574665	NM_153758.5(IL19):c.-149+260C>T	IL19, IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1612200	NM_153758.5(IL19):c.-149+261C>T	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1576436	NM_153758.5(IL19):c.-149+263C>T	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1480748	NM_153758.5(IL19):c.-149+272T>C	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GUncertain significance
Select item 2297180	NM_000572.3(IL10):c.215A>G (p.Glu72Gly)	IL10, IL19 (E72G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2779997	NM_000572.3(IL10):c.213G>T (p.Leu71=)	IL10, IL19	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 1367861	NM_000572.3(IL10):c.209T>A (p.Leu70Ter)	IL10, IL19 (L70*)	Single nucleotide variant (nonsense +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1108648	NM_000572.3(IL10):c.201G>A (p.Lys67=)	IL10, IL19	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 2708725	NM_153758.5(IL19):c.-149+344G>A	IL19, IL10	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1673878	NM_153758.5(IL19):c.-149+352A>G	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GBenign
Select item 2032719	NM_153758.5(IL19):c.-149+356G>A	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 2628131	NM_153758.5(IL19):c.-149+438A>C	IL10, IL19	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1149147	NM_153758.5(IL19):c.-149+1173C>T	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1598090	NM_153758.5(IL19):c.-149+1178A>G	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 2718333	NM_153758.5(IL19):c.-149+1179G>A	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 729486	NM_153758.5(IL19):c.-149+1185A>G	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GBenign
Select item 2100551	NM_000572.3(IL10):c.137A>G (p.Asp46Gly)	IL10, IL19 +1 more (D46G)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2034096	NM_000572.3(IL10):c.135A>C (p.Arg45=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 840379	NM_000572.3(IL10):c.134G>A (p.Arg45Gln)	LOC128462409, IL10 +1 more (R45Q)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1493990	NM_000572.3(IL10):c.121C>T (p.Leu41Phe)	IL10, IL19 +1 more (L41F)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2168240	NM_000572.3(IL10):c.118A>G (p.Met40Val)	IL10, IL19 +1 more (M40V)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1963390	NM_000572.3(IL10):c.112C>G (p.Pro38Ala)	IL10, IL19 +1 more (P38A)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1051340	NM_000572.3(IL10):c.100C>A (p.Pro34Thr)	IL10, IL19 +1 more (P34T)	Single nucleotide variant (intron variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 526787	NM_000572.3(IL10):c.94C>A (p.His32Asn)	IL10, IL19 +1 more (H32N)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance

<< First< Prev

Page of 2