KLHL30[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
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

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