KLHL30[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259662	NM_198582.4(KLHL30):c.8G>A (p.Arg3Gln)	KLHL30 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357905	NM_198582.4(KLHL30):c.13G>A (p.Val5Met)	KLHL30 (V5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246493	NM_198582.4(KLHL30):c.18T>A (p.Asp6Glu)	KLHL30 (D6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462167	NM_198582.4(KLHL30):c.103G>T (p.Val35Phe)	KLHL30 (V35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391183	NM_198582.4(KLHL30):c.121G>A (p.Gly41Ser)	KLHL30 (G41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523800	NM_198582.4(KLHL30):c.142C>T (p.Arg48Cys)	KLHL30 (R48C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2215134	NM_198582.4(KLHL30):c.199G>A (p.Ala67Thr)	KLHL30 (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596188	NM_198582.4(KLHL30):c.202G>A (p.Glu68Lys)	KLHL30 (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288984	NM_198582.4(KLHL30):c.215C>T (p.Ala72Val)	KLHL30 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458261	NM_198582.4(KLHL30):c.218G>A (p.Arg73His)	KLHL30 (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652061	NM_198582.4(KLHL30):c.229C>A (p.Arg77=)	KLHL30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115646	NM_198582.4(KLHL30):c.247G>A (p.Val83Met)	KLHL30 (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266808	NM_198582.4(KLHL30):c.260T>C (p.Leu87Pro)	KLHL30 (L87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396601	NM_198582.4(KLHL30):c.268T>G (p.Phe90Val)	KLHL30 (F90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232236	NM_198582.4(KLHL30):c.296C>T (p.Thr99Met)	KLHL30 (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115647	NM_198582.4(KLHL30):c.322C>T (p.Arg108Cys)	KLHL30 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242503	NM_198582.4(KLHL30):c.367G>A (p.Gly123Ser)	KLHL30 (G123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115648	NM_198582.4(KLHL30):c.370C>T (p.Arg124Cys)	KLHL30 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456130	NM_198582.4(KLHL30):c.397G>A (p.Ala133Thr)	KLHL30 (A133T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356337	NM_198582.4(KLHL30):c.424G>A (p.Gly142Arg)	KLHL30 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212444	NM_198582.4(KLHL30):c.437G>T (p.Gly146Val)	KLHL30 (G146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231897	NM_198582.4(KLHL30):c.443T>A (p.Leu148Gln)	KLHL30 (L148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401466	NM_198582.4(KLHL30):c.448G>A (p.Val150Met)	KLHL30 (V150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213549	NM_198582.4(KLHL30):c.476G>A (p.Arg159Gln)	KLHL30 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304806	NM_198582.4(KLHL30):c.499C>T (p.Arg167Cys)	KLHL30 (R167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115650	NM_198582.4(KLHL30):c.500G>A (p.Arg167His)	KLHL30 (R167H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115651	NM_198582.4(KLHL30):c.523C>G (p.Pro175Ala)	KLHL30 (P175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288980	NM_198582.4(KLHL30):c.575C>T (p.Pro192Leu)	KLHL30 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473202	NM_198582.4(KLHL30):c.585C>A (p.Ser195Arg)	KLHL30 (S195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518061	NM_198582.4(KLHL30):c.587G>A (p.Arg196Gln)	KLHL30 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610742	NM_198582.4(KLHL30):c.605G>A (p.Arg202His)	KLHL30 (R202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372322	NM_198582.4(KLHL30):c.626A>G (p.Gln209Arg)	KLHL30 (Q209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333694	NM_198582.4(KLHL30):c.637G>A (p.Ala213Thr)	KLHL30 (A213T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115652	NM_198582.4(KLHL30):c.641A>T (p.His214Leu)	KLHL30 (H214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115653	NM_198582.4(KLHL30):c.718C>G (p.Pro240Ala)	KLHL30 (P240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115654	NM_198582.4(KLHL30):c.826G>A (p.Gly276Arg)	KLHL30 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115655	NM_198582.4(KLHL30):c.829C>G (p.Gln277Glu)	KLHL30 (Q277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115656	NM_198582.4(KLHL30):c.863C>T (p.Pro288Leu)	KLHL30 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288979	NM_198582.4(KLHL30):c.869C>A (p.Pro290His)	KLHL30 (P290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619929	NM_198582.4(KLHL30):c.887C>A (p.Ala296Asp)	KLHL30 (A296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619930	NM_198582.4(KLHL30):c.893A>G (p.Tyr298Cys)	KLHL30 (Y298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288985	NM_198582.4(KLHL30):c.949T>A (p.Trp317Arg)	KLHL30 (W317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115657	NM_198582.4(KLHL30):c.986A>G (p.Tyr329Cys)	KLHL30 (Y329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294270	NM_198582.4(KLHL30):c.1001C>T (p.Ser334Phe)	KLHL30 (S334F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115635	NM_198582.4(KLHL30):c.1078G>A (p.Val360Met)	KLHL30 (V360M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115636	NM_198582.4(KLHL30):c.1082C>T (p.Ala361Val)	KLHL30 (A361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475823	NM_198582.4(KLHL30):c.1082C>A (p.Ala361Glu)	KLHL30 (A361E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288983	NM_198582.4(KLHL30):c.1100G>A (p.Arg367His)	KLHL30 (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115637	NM_198582.4(KLHL30):c.1127A>G (p.Asn376Ser)	KLHL30 (N376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115638	NM_198582.4(KLHL30):c.1174G>A (p.Val392Met)	KLHL30 (V392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382909	NM_198582.4(KLHL30):c.1213G>A (p.Val405Ile)	KLHL30 (V405I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115639	NM_198582.4(KLHL30):c.1217G>T (p.Ser406Ile)	KLHL30 (S406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377002	NM_198582.4(KLHL30):c.1228A>G (p.Lys410Glu)	KLHL30 (K410E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608492	NM_198582.4(KLHL30):c.1249G>T (p.Ala417Ser)	KLHL30 (A417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115640	NM_198582.4(KLHL30):c.1261C>T (p.Arg421Trp)	KLHL30 (R421W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372002	NM_198582.4(KLHL30):c.1262G>A (p.Arg421Gln)	KLHL30 (R421Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115641	NM_198582.4(KLHL30):c.1265G>T (p.Gly422Val)	KLHL30 (G422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115642	NM_198582.4(KLHL30):c.1286C>G (p.Ser429Cys)	KLHL30 (S429C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205944	NM_198582.4(KLHL30):c.1291G>A (p.Ala431Thr)	KLHL30 (A431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206049	NM_198582.4(KLHL30):c.1361C>T (p.Ser454Leu)	KLHL30 (S454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276886	NM_198582.4(KLHL30):c.1388C>T (p.Ser463Leu)	KLHL30 (S463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466487	NM_198582.4(KLHL30):c.1396T>C (p.Cys466Arg)	KLHL30 (C466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115643	NM_198582.4(KLHL30):c.1412G>C (p.Gly471Ala)	KLHL30 (G471A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288981	NM_198582.4(KLHL30):c.1427T>C (p.Ile476Thr)	KLHL30 (I476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508866	NM_198582.4(KLHL30):c.1459G>A (p.Asp487Asn)	KLHL30 (D487N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310974	NM_198582.4(KLHL30):c.1519G>T (p.Ala507Ser)	KLHL30 (A507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320210	NM_198582.4(KLHL30):c.1591G>A (p.Val531Met)	KLHL30 (V531M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115644	NM_198582.4(KLHL30):c.1609G>A (p.Asp537Asn)	KLHL30 (D537N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362831	NM_198582.4(KLHL30):c.1613C>T (p.Thr538Met)	KLHL30 (T538M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400611	NM_198582.4(KLHL30):c.1618C>T (p.Arg540Trp)	KLHL30 (R540W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115645	NM_198582.4(KLHL30):c.1633C>T (p.Arg545Cys)	KLHL30 (R545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456169	NM_198582.4(KLHL30):c.1634G>A (p.Arg545His)	KLHL30 (R545H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72