ClinVar for Gene (Select 26249) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356869	NM_017415.3(KLHL3):c.1278G>A (p.Pro426=)	KLHL3	Single nucleotide variant (synonymous variant)	KLHL3-related disorder	GLikely benign
Select item 3339479	NM_017415.3(KLHL3):c.1322-3C>T	KLHL3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336258	NM_017415.3(KLHL3):c.481G>A (p.Val161Ile)	KLHL3 (V129I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288978	NM_017415.3(KLHL3):c.1108G>A (p.Val370Met)	KLHL3 (V288M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235152	NM_017415.3(KLHL3):c.1554_1570dup (p.Asn524delinsSerLysTrpGlnThrTer)	KLHL3	Duplication (nonsense)	Pseudohypoaldosteronism type 2D	GPathogenic
Select item 3115634	NM_017415.3(KLHL3):c.541G>C (p.Glu181Gln)	KLHL3 (E181Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115633	NM_017415.3(KLHL3):c.1673A>G (p.Asn558Ser)	KLHL3 (N476S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115632	NM_017415.3(KLHL3):c.1649A>C (p.Asn550Thr)	KLHL3 (N550T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115631	NM_017415.3(KLHL3):c.1309G>T (p.Gly437Cys)	KLHL3 (G355C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037901	NM_017415.3(KLHL3):c.1446C>T (p.Gly482=)	KLHL3	Single nucleotide variant (synonymous variant)	KLHL3-related disorder	GLikely benign
Select item 3006907	NM_017415.3(KLHL3):c.1021+12C>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965124	NM_017415.3(KLHL3):c.1531G>A (p.Asp511Asn)	KLHL3 (D429N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956101	NM_017415.3(KLHL3):c.134+20C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913388	NM_017415.3(KLHL3):c.1743C>T (p.Ala581=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899809	NM_017415.3(KLHL3):c.967G>A (p.Glu323Lys)	KLHL3 (E241K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893243	NM_017415.3(KLHL3):c.1422G>A (p.Ala474=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878036	NM_017415.3(KLHL3):c.1450+12C>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807334	NM_017415.3(KLHL3):c.1439G>A (p.Arg480His)	KLHL3 (R398H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804857	NM_017415.3(KLHL3):c.1435C>T (p.Arg479Cys)	KLHL3 (R397C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801937	NM_017415.3(KLHL3):c.122A>G (p.Asn41Ser)	KLHL3 (N9S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799979	NM_017415.3(KLHL3):c.430C>A (p.Gln144Lys)	KLHL3 (Q112K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796643	NM_017415.3(KLHL3):c.1546A>G (p.Thr516Ala)	KLHL3 (T484A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731564	NM_017415.3(KLHL3):c.921C>T (p.Gly307=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709462	NM_017415.3(KLHL3):c.495T>C (p.Thr165=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708088	NM_017415.3(KLHL3):c.1395A>T (p.Pro465=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689317	NM_017415.3(KLHL3):c.977G>A (p.Arg326Gln)	KLHL3 (R244Q +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 2632045	NM_017415.3(KLHL3):c.1054G>A (p.Val352Met)	KLHL3 (V270M +2 more)	Single nucleotide variant (missense variant)	KLHL3-related disorder	GUncertain significance
Select item 2630189	NM_017415.3(KLHL3):c.1064T>G (p.Phe355Cys)	KLHL3 (F273C +2 more)	Single nucleotide variant (missense variant)	KLHL3-related disorder	GUncertain significance
Select item 2565261	NM_017415.3(KLHL3):c.1706C>T (p.Thr569Met)	KLHL3 (T487M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528844	NM_017415.3(KLHL3):c.892A>G (p.Ser298Gly)	KLHL3 (S266G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516900	NM_017415.3(KLHL3):c.1043A>G (p.His348Arg)	KLHL3 (H316R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488351	NM_017415.3(KLHL3):c.976C>T (p.Arg326Trp)	KLHL3 (R244W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473540	NM_017415.3(KLHL3):c.1660G>A (p.Val554Met)	KLHL3 (V522M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442206	NM_017415.3(KLHL3):c.1084C>T (p.Arg362Trp)	KLHL3 (R280W +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2394088	NM_017415.3(KLHL3):c.1571A>C (p.Asn524Thr)	KLHL3 (N442T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383861	NM_017415.3(KLHL3):c.74C>T (p.Thr25Met)	KLHL3 (T25M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2337130	NM_017415.3(KLHL3):c.365T>C (p.Val122Ala)	KLHL3 (V122A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330439	NM_017415.3(KLHL3):c.346A>T (p.Thr116Ser)	KLHL3 (T34S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317199	NM_017415.3(KLHL3):c.865C>G (p.Pro289Ala)	KLHL3 (P257A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311981	NM_017415.3(KLHL3):c.1402A>G (p.Asn468Asp)	KLHL3 (N436D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299376	NM_017415.3(KLHL3):c.796A>G (p.Lys266Glu)	KLHL3 (K234E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299304	NM_017415.3(KLHL3):c.263C>T (p.Ala88Val)	KLHL3 (A88V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282566	NM_017415.3(KLHL3):c.1721G>A (p.Gly574Glu)	KLHL3 (G574E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259530	NM_017415.3(KLHL3):c.286G>A (p.Val96Met)	KLHL3 (V64M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184396	NM_017415.3(KLHL3):c.526+5G>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2183832	NM_017415.3(KLHL3):c.496G>A (p.Asp166Asn)	KLHL3 (D134N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183588	NM_017415.3(KLHL3):c.738G>T (p.Arg246Ser)	KLHL3 (R214S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176270	NM_017415.3(KLHL3):c.173A>G (p.Asp58Gly)	KLHL3 (D26G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2173479	NM_017415.3(KLHL3):c.58G>A (p.Glu20Lys)	KLHL3 (E20K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170548	NM_017415.3(KLHL3):c.1014C>T (p.Cys338=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2147691	NM_017415.3(KLHL3):c.943C>T (p.Arg315Cys)	KLHL3 (R315C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135037	NM_017415.3(KLHL3):c.734C>A (p.Pro245His)	KLHL3 (P163H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122861	NM_017415.3(KLHL3):c.604A>T (p.Ser202Cys)	KLHL3 (S202C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118544	NM_017415.3(KLHL3):c.1735+16C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075243	NM_017415.3(KLHL3):c.299C>T (p.Thr100Met)	KLHL3 (T100M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2073119	NM_017415.3(KLHL3):c.1105G>A (p.Gly369Ser)	KLHL3 (G337S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070146	NM_017415.3(KLHL3):c.401A>G (p.Asp134Gly)	KLHL3 (D102G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066195	NM_017415.3(KLHL3):c.1479C>T (p.Tyr493=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045749	NM_017415.3(KLHL3):c.1220-5C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023310	NM_017415.3(KLHL3):c.1591+19A>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018106	NM_017415.3(KLHL3):c.1747A>G (p.Ile583Val)	KLHL3 (I501V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004747	NM_017415.3(KLHL3):c.1153A>G (p.Ser385Gly)	KLHL3 (S385G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992142	NM_017415.3(KLHL3):c.1321+20C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988609	NM_017415.3(KLHL3):c.903+16A>G	KLHL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1988163	NM_017415.3(KLHL3):c.241+20T>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986389	NM_017415.3(KLHL3):c.467G>A (p.Arg156His)	KLHL3 (R74H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1973854	NM_017415.3(KLHL3):c.1427T>C (p.Met476Thr)	KLHL3 (M394T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973499	NM_017415.3(KLHL3):c.1170G>T (p.Ala390=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952514	NM_017415.3(KLHL3):c.97A>G (p.Met33Val)	KLHL3 (M33V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919075	NM_017415.3(KLHL3):c.466C>T (p.Arg156Cys)	KLHL3 (R124C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918365	NM_017415.3(KLHL3):c.1566C>T (p.Asp522=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916830	NM_017415.3(KLHL3):c.1134C>T (p.Ala378=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907419	NM_017415.3(KLHL3):c.407G>A (p.Arg136Gln)	KLHL3 (R136Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900782	NM_017415.3(KLHL3):c.1219+12GT[2]	KLHL3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1807568	GRCh37/hg19 5q31.2(chr5:136409275-136960997)x1	KLHL3, SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1314383	NM_017415.3(KLHL3):c.1654G>T (p.Ala552Ser)	KLHL3 (A470S +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 1295516	NM_017415.3(KLHL3):c.526+21T>A	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign
Select item 1289742	NM_017415.3(KLHL3):c.636+128G>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288563	NM_017415.3(KLHL3):c.134+250T>C	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285862	NM_017415.3(KLHL3):c.1451-295C>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285800	NM_017415.3(KLHL3):c.1022-282G>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283012	NM_017415.3(KLHL3):c.1735+29C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282889	NM_017415.3(KLHL3):c.637-93CT[6]	KLHL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1282273	NM_017415.3(KLHL3):c.1322-99G>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281568	NM_017415.3(KLHL3):c.1451-285GT[3]	KLHL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1280308	NM_017415.3(KLHL3):c.904-298G>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277517	NM_017415.3(KLHL3):c.1591+240T>C	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273386	NM_017415.3(KLHL3):c.637-253GT[18]	KLHL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1271331	NM_017415.3(KLHL3):c.1321+282C>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261341	NM_017415.3(KLHL3):c.1735+42A>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261125	NM_017415.3(KLHL3):c.1022-224T>A	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259759	NM_017415.3(KLHL3):c.1451-263_1451-261del	KLHL3	Deletion (intron variant)	not provided	GBenign
Select item 1259713	NM_017415.3(KLHL3):c.637-253GT[19]	KLHL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1258432	NM_017415.3(KLHL3):c.526+212A>G	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257113	NM_017415.3(KLHL3):c.637-84_637-83insTCTT	KLHL3	Insertion (intron variant)	not provided	GBenign
Select item 1253270	NM_017415.3(KLHL3):c.1735+271C>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253032	NM_017415.3(KLHL3):c.1321+223G>T	KLHL3	Single nucleotide variant (intron variant)	not provided	GBenign

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