CHUK[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 1484530	NM_001278.5(CHUK):c.2231C>T (p.Thr744Ile)	CHUK (T744I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954817	NM_001278.5(CHUK):c.2209-8G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988456	NM_001278.5(CHUK):c.2209-11C>G	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262254	NM_001278.5(CHUK):c.2209-47A>C	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223963	NM_001278.5(CHUK):c.2209-221dup	CHUK	Duplication (intron variant)	not provided	GBenign
Select item 1640646	NM_001278.5(CHUK):c.2198A>G (p.Asn733Ser)	CHUK (N733S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1630506	NM_001278.5(CHUK):c.2175T>C (p.His725=)	CHUK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1667719	NM_001278.5(CHUK):c.2140T>C (p.Leu714=)	CHUK (F708S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922525	NM_001278.5(CHUK):c.2109-14C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943778	NM_001278.5(CHUK):c.2109-17G>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971404	NM_001278.5(CHUK):c.2108+18C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900880	NM_001278.5(CHUK):c.2108+14G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1438153	NM_001278.5(CHUK):c.2086T>C (p.Cys696Arg)	CHUK (C696R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908514	NM_001278.5(CHUK):c.2080C>T (p.Leu694=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893910	NM_001278.5(CHUK):c.2055G>A (p.Pro685=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394121	NM_001278.5(CHUK):c.2054C>T (p.Pro685Leu)	CHUK (P685L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392951	NM_001278.5(CHUK):c.2006C>G (p.Ser669Cys)	CHUK (S669C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095518	NM_001278.5(CHUK):c.2001A>G (p.Val667=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1238295	NM_001278.5(CHUK):c.1975-87G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178394	NM_001278.5(CHUK):c.1975-93G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261441	NM_001278.5(CHUK):c.1975-137T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235205	NM_001278.5(CHUK):c.1974+36T>G	CHUK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2807557	NM_001278.5(CHUK):c.1974+8A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392997	NM_001278.5(CHUK):c.1958T>G (p.Leu653Arg)	CHUK (L653R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787517	NM_001278.5(CHUK):c.1936A>C (p.Arg646=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187807	NM_001278.5(CHUK):c.1908C>A (p.Asp636Glu)	CHUK (D636E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537357	NM_001278.5(CHUK):c.1897A>G (p.Lys633Glu)	CHUK (K633E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2759779	NM_001278.5(CHUK):c.1896C>T (p.Ile632=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482261	NM_001278.5(CHUK):c.1858G>A (p.Asp620Asn)	CHUK (D620N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486501	NM_001278.5(CHUK):c.1841G>A (p.Cys614Tyr)	CHUK (C614Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668611	NM_001278.5(CHUK):c.1831T>C (p.Leu611=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831303	NM_001278.5(CHUK):c.1827-14T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261076	NM_001278.5(CHUK):c.1827-34G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290544	NM_001278.5(CHUK):c.1827-37C>A	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 2904906	NM_001278.5(CHUK):c.1818T>C (p.Gly606=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378844	NM_001278.5(CHUK):c.1776C>T (p.His592=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960870	NM_001278.5(CHUK):c.1771G>A (p.Val591Met)	CHUK (V591M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264587	NM_001278.5(CHUK):c.1730-69G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1603179	NM_001278.5(CHUK):c.1729+16C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659619	NM_001278.5(CHUK):c.1719C>T (p.His573=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490322	NM_001278.5(CHUK):c.1688G>A (p.Arg563His)	CHUK (R563H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426666	NM_001278.5(CHUK):c.1687C>T (p.Arg563Cys)	CHUK (R563C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1655587	NM_001278.5(CHUK):c.1680-18G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913396	NM_001278.5(CHUK):c.1680-19C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288529	NM_001278.5(CHUK):c.1679+286C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1557250	NM_001278.5(CHUK):c.1679+18T>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640728	NM_001278.5(CHUK):c.1679+12C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721450	NM_001278.5(CHUK):c.1679+10C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2541432	NM_001278.5(CHUK):c.1670T>C (p.Met557Thr)	CHUK (M557T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1356381	NM_001278.5(CHUK):c.1646A>G (p.Tyr549Cys)	CHUK (Y549C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620948	NM_001278.5(CHUK):c.1570-14T>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663335	NM_001278.5(CHUK):c.1569+18A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957831	NM_001278.5(CHUK):c.1569+15G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910737	NM_001278.5(CHUK):c.1569+14C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1365350	NM_001278.5(CHUK):c.1569+6A>C	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1364919	NM_001278.5(CHUK):c.1559A>G (p.His520Arg)	CHUK (H520R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1447143	NM_001278.5(CHUK):c.1535A>G (p.Lys512Arg)	CHUK (K512R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1634748	NM_001278.5(CHUK):c.1530A>C (p.Ala510=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645544	NM_001278.5(CHUK):c.1512A>C (p.Ser504=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743774	NM_001278.5(CHUK):c.1508-5T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285832	NM_001278.5(CHUK):c.1508-306A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774686	NM_001278.5(CHUK):c.1503G>A (p.Gly501=)	CHUK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1601234	NM_001278.5(CHUK):c.1497G>A (p.Thr499=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2417320	NM_001278.5(CHUK):c.1496C>T (p.Thr499Met)	CHUK (T499M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566471	NM_001278.5(CHUK):c.1485C>T (p.Ser495=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1261345	NM_001278.5(CHUK):c.1458C>T (p.Ser486=)	CHUK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2123939	NM_001278.5(CHUK):c.1457G>T (p.Ser486Ile)	CHUK (S486I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942914	NM_001278.5(CHUK):c.1444T>A (p.Phe482Ile)	CHUK (F482I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068329	NM_001278.5(CHUK):c.1443G>A (p.Glu481=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132151	NM_001278.5(CHUK):c.1425A>G (p.Gln475=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543909	NM_001278.5(CHUK):c.1410C>A (p.Ile470=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103409	NM_001278.5(CHUK):c.1356-9G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898353	NM_001278.5(CHUK):c.1356-16dup	CHUK	Duplication (intron variant)	not provided	GBenign
Select item 770396	NM_001278.5(CHUK):c.1341A>G (p.Gly447=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3012521	NM_001278.5(CHUK):c.1314A>G (p.Lys438=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791334	NM_001278.5(CHUK):c.1302G>A (p.Val434=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958348	NM_001278.5(CHUK):c.1294C>T (p.His432Tyr)	CHUK (H432Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263010	NM_001278.5(CHUK):c.1270C>T (p.Arg424Cys)	CHUK (R424C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 100832	NM_001278.5(CHUK):c.1270C>G (p.Arg424Gly)	CHUK (R424G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727318	NM_001278.5(CHUK):c.1269G>C (p.Leu423=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8946	NM_001278.5(CHUK):c.1264C>T (p.Gln422Ter)	CHUK (Q422*)	Single nucleotide variant (nonsense)	Cocoon syndrome	GPathogenic
Select item 2494566	NM_001278.5(CHUK):c.1262T>C (p.Ile421Thr)	CHUK (I421T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490683	NM_001278.5(CHUK):c.1258A>G (p.Ile420Val)	CHUK (I420V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459668	NM_001278.5(CHUK):c.1249C>T (p.Gln417Ter)	CHUK (Q417*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1261240	NM_001278.5(CHUK):c.1231+220del	CHUK	Deletion (intron variant)	not provided	GBenign
Select item 1257677	NM_001278.5(CHUK):c.1231+163G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1588355	NM_001278.5(CHUK):c.1231+18A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971396	NM_001278.5(CHUK):c.1231+12C>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870836	NM_001278.5(CHUK):c.1231+10G>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936347	NM_001278.5(CHUK):c.1231+3A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2180322	NM_001278.5(CHUK):c.1219G>A (p.Val407Ile)	CHUK (V407I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636976	NM_001278.5(CHUK):c.1170T>C (p.Ser390=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563254	NM_001278.5(CHUK):c.1164T>C (p.Asp388=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362828	NM_001278.5(CHUK):c.1150G>A (p.Val384Ile)	CHUK (V384I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1353145	NM_001278.5(CHUK):c.1136G>A (p.Cys379Tyr)	CHUK (C379Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3