KLB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153075	GRCh38/hg38 4p14(chr4:39222108-39491610)x3	KLB, LIAS +9 more	Copy number gain	See cases	GBenign
Select item 2269413	NM_175737.4(KLB):c.17C>T (p.Ala6Val)	KLB (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1634175	NM_175737.4(KLB):c.26C>A (p.Ser9Tyr)	KLB (S9Y)	Single nucleotide variant (missense variant)	KLB-related condition +1 more	GBenign/Likely benign
Select item 2282034	NM_175737.4(KLB):c.59A>G (p.Asp20Gly)	KLB (D20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1475038	NM_175737.4(KLB):c.74G>A (p.Arg25His)	KLB (R25H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879427	NM_175737.4(KLB):c.84T>C (p.Asn28=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909658	NM_175737.4(KLB):c.89T>C (p.Met30Thr)	KLB (M30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923157	NM_175737.4(KLB):c.96C>T (p.Asn32=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897205	NM_175737.4(KLB):c.101_102delinsAC (p.Gly34Asp)	KLB (G34D)	Indel (missense variant)	not provided	GUncertain significance
Select item 3115196	NM_175737.4(KLB):c.108A>T (p.Gln36His)	KLB (Q36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246291	NM_175737.4(KLB):c.112T>C (p.Ser38Pro)	KLB (S38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2864590	NM_175737.4(KLB):c.118A>G (p.Ile40Val)	KLB (I40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709407	NM_175737.4(KLB):c.130C>T (p.Leu44Phe)	KLB (L44F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3046714	NM_175737.4(KLB):c.166G>A (p.Asp56Asn)	KLB (D56N)	Single nucleotide variant (missense variant)	KLB-related condition	GLikely benign
Select item 713092	NM_175737.4(KLB):c.193C>G (p.Pro65Ala)	KLB (P65A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2611366	NM_175737.4(KLB):c.206C>T (p.Pro69Leu)	KLB (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2032574	NM_175737.4(KLB):c.233A>G (p.Tyr78Cys)	KLB (Y78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3115206	NM_175737.4(KLB):c.343C>T (p.His115Tyr)	KLB (H115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1663556	NM_175737.4(KLB):c.420C>G (p.Ala140=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604875	NM_175737.4(KLB):c.445T>C (p.Tyr149His)	KLB (Y149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2961086	NM_175737.4(KLB):c.448C>G (p.Gln150Glu)	KLB (Q150E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338388	NM_175737.4(KLB):c.464G>T (p.Trp155Leu)	KLB (W155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2716843	NM_175737.4(KLB):c.493A>G (p.Thr165Ala)	KLB (T165A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713075	NM_175737.4(KLB):c.497T>C (p.Val166Ala)	KLB (V166A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1344742	NM_175737.4(KLB):c.505G>A (p.Ala169Thr)	KLB (A169T)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 2524761	NM_175737.4(KLB):c.527G>A (p.Ser176Asn)	KLB (S176N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1931341	NM_175737.4(KLB):c.536T>C (p.Leu179Pro)	KLB (L179P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887374	NM_175737.4(KLB):c.540C>T (p.Asp180=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748396	NM_175737.4(KLB):c.624G>A (p.Gly208=)	KLB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2516292	NM_175737.4(KLB):c.638C>T (p.Thr213Ile)	KLB (T213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372277	NM_175737.4(KLB):c.647A>G (p.Asp216Gly)	KLB (D216G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478868	NM_175737.4(KLB):c.694C>T (p.Arg232Cys)	KLB (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517685	NM_175737.4(KLB):c.695G>A (p.Arg232His)	KLB (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039077	NM_175737.4(KLB):c.738T>C (p.Ala246=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related condition	GLikely benign
Select item 2868548	NM_175737.4(KLB):c.748_749insCCAT (p.Tyr250fs)	KLB (Y250fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2407130	NM_175737.4(KLB):c.793G>T (p.Ala265Ser)	KLB (A265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2758703	NM_175737.4(KLB):c.826-18A>C	KLB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083235	NM_175737.4(KLB):c.834G>A (p.Ser278=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368664	NM_175737.4(KLB):c.872A>G (p.His291Arg)	KLB (H291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679918	NM_175737.4(KLB):c.878A>T (p.Lys293Met)	KLB (K293M)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 2486043	NM_175737.4(KLB):c.923A>T (p.Asn308Ile)	KLB (N308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711940	NM_175737.4(KLB):c.930G>A (p.Ser310=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2715503	NM_175737.4(KLB):c.946A>G (p.Ile316Val)	KLB (I316V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2362941	NM_175737.4(KLB):c.967A>G (p.Met323Val)	KLB (M323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368911	NM_175737.4(KLB):c.983G>C (p.Gly328Ala)	KLB (G328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057185	NM_175737.4(KLB):c.1014C>T (p.Gly338=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038929	NM_175737.4(KLB):c.1015G>A (p.Asp339Asn)	KLB (D339N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1950343	NM_175737.4(KLB):c.1044G>A (p.Leu348=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639582	NM_175737.4(KLB):c.1050C>T (p.Ser350=)	KLB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2070187	NM_175737.4(KLB):c.1051G>A (p.Val351Ile)	KLB (V351I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2254595	NM_175737.4(KLB):c.1111G>A (p.Ala371Thr)	KLB (A371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906094	NM_175737.4(KLB):c.1125A>T (p.Gly375=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983913	NM_175737.4(KLB):c.1141C>A (p.Pro381Thr)	KLB (P381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386104	NM_175737.4(KLB):c.1148A>T (p.Asn383Ile)	KLB (N383I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602037	NM_175737.4(KLB):c.1174G>A (p.Val392Ile)	KLB (V392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724602	NM_175737.4(KLB):c.1197G>A (p.Ala399=)	KLB	Single nucleotide variant (synonymous variant)	KLB-related condition +1 more	GBenign
Select item 2514591	NM_175737.4(KLB):c.1271G>A (p.Arg424His)	KLB (R424H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2882913	NM_175737.4(KLB):c.1357C>A (p.Arg453=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327174	NM_175737.4(KLB):c.1390G>C (p.Asp464His)	KLB (D464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2913415	NM_175737.4(KLB):c.1419C>A (p.Thr473=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958452	NM_175737.4(KLB):c.1440T>C (p.Tyr480=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115197	NM_175737.4(KLB):c.1456A>G (p.Lys486Glu)	KLB (K486E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411252	NM_175737.4(KLB):c.1468C>T (p.Arg490Trp)	KLB (R490W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024414	NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)	KLB (R490Q)	Single nucleotide variant (missense variant)	Ocular motility disease	GUncertain significance
Select item 2732121	NM_175737.4(KLB):c.1511G>A (p.Arg504Gln)	KLB (R504Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2341601	NM_175737.4(KLB):c.1530A>C (p.Leu510Phe)	KLB (L510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115198	NM_175737.4(KLB):c.1541C>T (p.Thr514Met)	KLB (T514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1656481	NM_175737.4(KLB):c.1542G>T (p.Thr514=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747466	NM_175737.4(KLB):c.1546G>C (p.Asp516His)	KLB (D516H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759240	NM_175737.4(KLB):c.1605+7G>A	KLB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 2181399	NM_175737.4(KLB):c.1623G>A (p.Ser541=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298563	NM_175737.4(KLB):c.1654G>A (p.Val552Met)	KLB (V552M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2886149	NM_175737.4(KLB):c.1701G>A (p.Val567=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975136	NM_175737.4(KLB):c.1799C>G (p.Ala600Gly)	KLB (A600G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608424	NM_175737.4(KLB):c.1804G>T (p.Asp602Tyr)	KLB (D602Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319255	NM_175737.4(KLB):c.1817T>C (p.Val606Ala)	KLB (V606A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080756	NM_175737.4(KLB):c.1825A>G (p.Thr609Ala)	KLB (T609A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3115199	NM_175737.4(KLB):c.1835T>G (p.Leu612Arg)	KLB (L612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467868	NM_175737.4(KLB):c.1841C>T (p.Ala614Val)	KLB (A614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2065689	NM_175737.4(KLB):c.1854G>A (p.Gln618=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331119	NM_175737.4(KLB):c.1901G>A (p.Gly634Asp)	KLB (G634D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2386173	NM_175737.4(KLB):c.1914G>T (p.Met638Ile)	KLB (M638I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386174	NM_175737.4(KLB):c.1915G>A (p.Val639Ile)	KLB (V639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709177	NM_175737.4(KLB):c.1956C>G (p.Pro652=)	KLB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2342584	NM_175737.4(KLB):c.1999G>A (p.Ala667Thr)	KLB (A667T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115200	NM_175737.4(KLB):c.2017T>A (p.Tyr673Asn)	KLB (Y673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2916726	NM_175737.4(KLB):c.2073C>G (p.Ile691Met)	KLB (I691M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912075	NM_175737.4(KLB):c.2104A>G (p.Asn702Asp)	KLB (N702D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2342399	NM_175737.4(KLB):c.2113G>A (p.Gly705Ser)	KLB (G705S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396069	NM_175737.4(KLB):c.2128G>A (p.Gly710Arg)	KLB (G710R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292409	NM_175737.4(KLB):c.2129G>A (p.Gly710Glu)	KLB (G710E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601724	NM_175737.4(KLB):c.2183G>A (p.Arg728Gln)	KLB (R728Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2894374	NM_175737.4(KLB):c.2194C>G (p.Pro732Ala)	KLB (P732A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542991	NM_175737.4(KLB):c.2196C>G (p.Pro732=)	KLB	Single nucleotide variant (synonymous variant)	not provided	GBenign

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