"Ambry Genetics"[submitter] AND "KLHL35"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2319528	NM_001039548.3(KLHL35):c.1702T>C (p.Cys568Arg)	KLHL35 (C568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240245	NM_001039548.3(KLHL35):c.1667G>A (p.Ser556Asn)	KLHL35 (S556N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115710	NM_001039548.3(KLHL35):c.1625G>A (p.Arg542His)	KLHL35 (R542H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540923	NM_001039548.3(KLHL35):c.1615C>T (p.Arg539Trp)	KLHL35 (R539W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269551	NM_001039548.3(KLHL35):c.1601A>G (p.His534Arg)	KLHL35 (H534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218330	NM_001039548.3(KLHL35):c.1591G>A (p.Gly531Arg)	KLHL35 (G531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568921	NM_001039548.3(KLHL35):c.1580C>G (p.Thr527Ser)	KLHL35 (T527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289007	NM_001039548.3(KLHL35):c.1487G>A (p.Gly496Asp)	KLHL35 (G496D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385131	NM_001039548.3(KLHL35):c.1475A>G (p.Tyr492Cys)	KLHL35 (Y492C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115709	NM_001039548.3(KLHL35):c.1447G>C (p.Glu483Gln)	KLHL35 (E483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391154	NM_001039548.3(KLHL35):c.1447G>A (p.Glu483Lys)	KLHL35 (E483K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115707	NM_001039548.3(KLHL35):c.1414C>T (p.Arg472Trp)	KLHL35 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541574	NM_001039548.3(KLHL35):c.1403G>A (p.Arg468Gln)	KLHL35 (R468Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115706	NM_001039548.3(KLHL35):c.1402C>T (p.Arg468Trp)	KLHL35 (R468W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210501	NM_001039548.3(KLHL35):c.1360G>A (p.Val454Ile)	KLHL35 (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317109	NM_001039548.3(KLHL35):c.1316G>A (p.Cys439Tyr)	KLHL35 (C439Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302148	NM_001039548.3(KLHL35):c.1265C>T (p.Ala422Val)	KLHL35 (A422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569129	NM_001039548.3(KLHL35):c.1253C>G (p.Ser418Cys)	KLHL35 (S418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220945	NM_001039548.3(KLHL35):c.1251C>A (p.Phe417Leu)	KLHL35 (F417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115705	NM_001039548.3(KLHL35):c.1249T>C (p.Phe417Leu)	KLHL35 (F417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266926	NM_001039548.3(KLHL35):c.1240T>C (p.Tyr414His)	KLHL35 (Y414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115704	NM_001039548.3(KLHL35):c.1219C>T (p.Arg407Cys)	KLHL35 (R407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526230	NM_001039548.3(KLHL35):c.1207G>A (p.Asp403Asn)	KLHL35 (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467410	NM_001039548.3(KLHL35):c.1207G>C (p.Asp403His)	KLHL35 (D403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115703	NM_001039548.3(KLHL35):c.1193C>T (p.Ala398Val)	KLHL35 (A398V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280254	NM_001039548.3(KLHL35):c.1168G>A (p.Ala390Thr)	KLHL35 (A390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555843	NM_001039548.3(KLHL35):c.1162A>G (p.Lys388Glu)	KLHL35 (K388E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115702	NM_001039548.3(KLHL35):c.1144A>G (p.Lys382Glu)	KLHL35 (K382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289003	NM_001039548.3(KLHL35):c.1111C>G (p.Leu371Val)	KLHL35 (L371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289004	NM_001039548.3(KLHL35):c.1084C>G (p.His362Asp)	KLHL35 (H362D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115701	NM_001039548.3(KLHL35):c.1082G>A (p.Ser361Asn)	KLHL35 (S361N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115700	NM_001039548.3(KLHL35):c.1006C>A (p.Pro336Thr)	KLHL35, LOC111822946 (P336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285730	NM_001039548.3(KLHL35):c.985T>A (p.Trp329Arg)	KLHL35 (W329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538327	NM_001039548.3(KLHL35):c.971C>T (p.Pro324Leu)	KLHL35 (P324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493407	NM_001039548.3(KLHL35):c.928C>T (p.Arg310Cys)	KLHL35 (R310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552358	NM_001039548.3(KLHL35):c.871C>G (p.Arg291Gly)	KLHL35 (R291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622747	NM_001039548.3(KLHL35):c.848G>C (p.Arg283Pro)	KLHL35 (R283P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510936	NM_001039548.3(KLHL35):c.799G>C (p.Glu267Gln)	KLHL35 (E267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479946	NM_001039548.3(KLHL35):c.739C>A (p.Leu247Met)	KLHL35 (L247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115718	NM_001039548.3(KLHL35):c.625G>A (p.Gly209Ser)	KLHL35 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594239	NM_001039548.3(KLHL35):c.564C>G (p.His188Gln)	KLHL35 (H188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556078	NM_001039548.3(KLHL35):c.488C>T (p.Ala163Val)	KLHL35 (A163V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115717	NM_001039548.3(KLHL35):c.481G>C (p.Val161Leu)	KLHL35 (V161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115716	NM_001039548.3(KLHL35):c.475C>T (p.Arg159Cys)	KLHL35 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408154	NM_001039548.3(KLHL35):c.469G>T (p.Ala157Ser)	KLHL35 (A157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115715	NM_001039548.3(KLHL35):c.467T>C (p.Leu156Pro)	KLHL35 (L156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115714	NM_001039548.3(KLHL35):c.425G>C (p.Cys142Ser)	KLHL35, LOC130006425 (C142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241836	NM_001039548.3(KLHL35):c.422C>T (p.Ala141Val)	KLHL35, LOC130006425 (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329778	NM_001039548.3(KLHL35):c.416G>A (p.Arg139His)	KLHL35, LOC130006425 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347586	NM_001039548.3(KLHL35):c.389C>G (p.Ala130Gly)	KLHL35 (A130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115713	NM_001039548.3(KLHL35):c.386T>C (p.Leu129Pro)	KLHL35 (L129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407198	NM_001039548.3(KLHL35):c.356C>T (p.Ala119Val)	KLHL35 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289005	NM_001039548.3(KLHL35):c.331T>G (p.Tyr111Asp)	KLHL35 (Y111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289006	NM_001039548.3(KLHL35):c.323A>C (p.Asp108Ala)	KLHL35 (D108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389930	NM_001039548.3(KLHL35):c.323A>G (p.Asp108Gly)	KLHL35 (D108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289001	NM_001039548.3(KLHL35):c.308T>C (p.Leu103Pro)	KLHL35, LOC130006426 (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289002	NM_001039548.3(KLHL35):c.295G>A (p.Ala99Thr)	KLHL35, LOC130006426 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408929	NM_001039548.3(KLHL35):c.275C>A (p.Pro92Gln)	KLHL35, LOC130006426 (P92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115712	NM_001039548.3(KLHL35):c.253G>A (p.Val85Met)	KLHL35, LOC130006426 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343153	NM_001039548.3(KLHL35):c.232G>A (p.Gly78Ser)	KLHL35, LOC130006426 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357333	NM_001039548.3(KLHL35):c.230G>A (p.Arg77His)	KLHL35, LOC130006426 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481085	NM_001039548.3(KLHL35):c.200G>C (p.Arg67Pro)	KLHL35, LOC130006426 (R67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115711	NM_001039548.3(KLHL35):c.194A>G (p.Tyr65Cys)	KLHL35, LOC130006426 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253596	NM_001039548.3(KLHL35):c.169G>A (p.Ala57Thr)	KLHL35, LOC130006426 (A57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607538	NM_001039548.3(KLHL35):c.143G>C (p.Gly48Ala)	KLHL35, LOC130006426 (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333234	NM_001039548.3(KLHL35):c.119T>A (p.Leu40His)	KLHL35, LOC130006426 (L40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489892	NM_001039548.3(KLHL35):c.116C>T (p.Thr39Ile)	KLHL35, LOC130006426 (T39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388060	NM_001039548.3(KLHL35):c.92T>C (p.Leu31Pro)	KLHL35, LOC130006426 (L31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478369	NM_001039548.3(KLHL35):c.70G>A (p.Ala24Thr)	KLHL35 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115719	NM_001039548.3(KLHL35):c.69C>A (p.His23Gln)	KLHL35 (H23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 70