KLC4[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 2238361	NM_201521.3(KLC4):c.-26+538G>T	KLC4 (G5V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2656575	NM_201521.3(KLC4):c.-26+627T>C	KLC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2326696	NM_201521.3(KLC4):c.-23C>T	KLC4 (P11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394188	NM_201521.3(KLC4):c.26G>A (p.Arg9Gln)	KLC4 (R27Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595007	NM_201521.3(KLC4):c.38C>G (p.Ala13Gly)	KLC4 (A13G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115244	NM_201521.3(KLC4):c.47G>A (p.Arg16Gln)	KLC4 (R34Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373543	NM_201521.3(KLC4):c.79C>T (p.Arg27Trp)	KLC4 (R27W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492605	NM_201521.3(KLC4):c.203C>A (p.Ala68Asp)	KLC4 (A68D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472460	NM_201521.3(KLC4):c.218G>A (p.Arg73His)	KLC4 (R73H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115252	NM_201521.3(KLC4):c.234T>G (p.Ile78Met)	KLC4 (I78M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115253	NM_201521.3(KLC4):c.260T>G (p.Val87Gly)	KLC4 (V105G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618514	NM_201521.3(KLC4):c.322C>G (p.Gln108Glu)	KLC4 (Q108E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229793	NM_201521.3(KLC4):c.413C>T (p.Ala138Val)	KLC4 (A138V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301767	NM_201521.3(KLC4):c.454C>A (p.Gln152Lys)	KLC4 (Q170K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270428	NM_201521.3(KLC4):c.461G>A (p.Arg154Gln)	KLC4 (R154Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334583	NM_201521.3(KLC4):c.553G>T (p.Glu185Ter)	KLC4 (E108* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2529634	NM_201521.3(KLC4):c.566A>G (p.Asn189Ser)	KLC4 (N112S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509418	NM_201521.3(KLC4):c.578G>A (p.Arg193His)	KLC4 (R211H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115255	NM_201521.3(KLC4):c.599C>T (p.Ala200Val)	KLC4 (A200V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335822	NM_201521.3(KLC4):c.716A>G (p.Glu239Gly)	KLC4 (E239G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115256	NM_201521.3(KLC4):c.745C>T (p.His249Tyr)	KLC4 (H172Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265028	NM_201521.3(KLC4):c.748C>A (p.Pro250Thr)	KLC4 (P250T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115258	NM_201521.3(KLC4):c.862G>C (p.Gly288Arg)	KLC4 (G211R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271810	NM_201521.3(KLC4):c.869A>G (p.Asp290Gly)	KLC4 (D213G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115259	NM_201521.3(KLC4):c.914A>G (p.Tyr305Cys)	KLC4 (Y305C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372483	NM_201521.3(KLC4):c.992C>T (p.Thr331Met)	KLC4 (T254M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115245	NM_201521.3(KLC4):c.1073G>A (p.Arg358His)	KLC4 (R358H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375148	NM_201521.3(KLC4):c.1096A>G (p.Ile366Val)	KLC4 (I366V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511536	NM_201521.3(KLC4):c.1138C>T (p.Arg380Trp)	KLC4 (R380W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255212	NM_201521.3(KLC4):c.1191G>C (p.Glu397Asp)	KLC4 (E415D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115246	NM_201521.3(KLC4):c.1222C>T (p.Arg408Cys)	KLC4 (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115247	NM_201521.3(KLC4):c.1258G>A (p.Asp420Asn)	KLC4 (D438N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517072	NM_201521.3(KLC4):c.1302G>A (p.Met434Ile)	KLC4 (M434I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115248	NM_201521.3(KLC4):c.1327G>A (p.Gly443Arg)	KLC4 (G443R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478263	NM_201521.3(KLC4):c.1351G>C (p.Gly451Arg)	KLC4 (G451R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610224	NM_201521.3(KLC4):c.1358A>G (p.Tyr453Cys)	KLC4 (Y453C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115249	NM_201521.3(KLC4):c.1426C>T (p.Arg476Cys)	KLC4 (R399C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369844	NM_201521.3(KLC4):c.1427G>A (p.Arg476His)	KLC4 (R399H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370937	NM_201521.3(KLC4):c.1481G>A (p.Arg494Gln)	KLC4 (R417Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223782	NM_201521.3(KLC4):c.1588G>A (p.Glu530Lys)	KLC4 (E453K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115250	NM_201521.3(KLC4):c.1591G>A (p.Gly531Arg)	KLC4 (G531R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381522	NM_201521.3(KLC4):c.1609G>C (p.Val537Leu)	KLC4 (V460L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225071	NM_201521.3(KLC4):c.1702C>T (p.Leu568Phe)	KLC4 (L491F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115251	NM_201521.3(KLC4):c.1817G>A (p.Arg606Gln)	KLC4 (R606Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	KLC4, POLR1C +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	ABCC10, CRIP3 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 56