ClinVar for Gene (Select 10283) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382465	NM_005869.4(CWC27):c.656del (p.Asn219fs)	CWC27 (N219fs)	Deletion (frameshift variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GLikely pathogenic
Select item 3341815	NM_005869.4(CWC27):c.938+10917T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3270374	NM_005869.4(CWC27):c.232A>G (p.Ile78Val)	CWC27 (I78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246512	NC_000005.9:g.(?_64077833)_(64174102_?)del	CWC27	Deletion	not provided	GLikely pathogenic
Select item 3062873	GRCh37/hg19 5q12.3(chr5:64049693-64166882)x1	CWC27, SREK1IP1	Copy number loss	not specified	GUncertain significance
Select item 3043591	NM_005869.4(CWC27):c.938+3349C>T	CWC27 (R359C)	Single nucleotide variant (missense variant +1 more)	CWC27-related disorder	GBenign
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 3016208	NM_005869.4(CWC27):c.1256+7G>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008533	NM_005869.4(CWC27):c.330C>T (p.Gly110=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001143	NM_005869.4(CWC27):c.496-14A>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998051	NM_005869.4(CWC27):c.397-12T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990043	NM_005869.4(CWC27):c.396+10C>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983882	NM_005869.4(CWC27):c.1299G>A (p.Val433=)	CWC27	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971458	NM_005869.4(CWC27):c.355C>T (p.Arg119Ter)	CWC27 (R119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2967912	NM_005869.4(CWC27):c.397-16A>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963690	NM_005869.4(CWC27):c.252+1G>A	CWC27	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2962565	NM_005869.4(CWC27):c.1153-1G>C	CWC27	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2960131	NM_005869.4(CWC27):c.1095A>G (p.Gln365=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881903	NM_005869.4(CWC27):c.309T>C (p.Asn103=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881636	NM_005869.4(CWC27):c.396+11A>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875372	NM_005869.4(CWC27):c.1042+20T>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864998	NM_005869.4(CWC27):c.922A>T (p.Lys308Ter)	CWC27 (K308*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2848951	NM_005869.4(CWC27):c.600-8del	CWC27	Deletion (intron variant)	not provided	GBenign
Select item 2845809	NM_005869.4(CWC27):c.670-8C>A	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841850	NM_005869.4(CWC27):c.878C>T (p.Thr293Ile)	CWC27 (T293I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820452	NM_005869.4(CWC27):c.396+19T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820174	NM_005869.4(CWC27):c.599+9A>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818270	NM_005869.4(CWC27):c.1153-7A>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816802	NM_005869.4(CWC27):c.120dup (p.Ile41fs)	CWC27 (I41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2814806	NM_005869.4(CWC27):c.203C>T (p.Pro68Leu)	CWC27 (P68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807899	NM_005869.4(CWC27):c.600-11T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805948	NM_005869.4(CWC27):c.801A>G (p.Ala267=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796534	NM_005869.4(CWC27):c.600-21_600-17del	CWC27	Deletion (intron variant)	not provided	GLikely benign
Select item 2782836	NM_005869.4(CWC27):c.749+11T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782350	NM_005869.4(CWC27):c.885G>A (p.Ala295=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769599	NM_005869.4(CWC27):c.326del (p.Asn109fs)	CWC27 (N109fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2731922	NM_005869.4(CWC27):c.1033A>C (p.Arg345=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729822	NM_005869.4(CWC27):c.600-9_606del	CWC27	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2705427	NM_005869.4(CWC27):c.543G>T (p.Arg181Ser)	CWC27 (R181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704800	NM_005869.4(CWC27):c.1407_1411del (p.Glu470fs)	CWC27 (E470fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2692661	NM_005869.4(CWC27):c.1392G>C (p.Leu464=)	CWC27	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2655493	NM_005869.4(CWC27):c.1257-20056G>A	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655492	NM_005869.4(CWC27):c.938+3206T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2607427	NM_005869.4(CWC27):c.86G>C (p.Trp29Ser)	CWC27 (W29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576223	NM_005869.4(CWC27):c.669+1G>A	CWC27	Single nucleotide variant (splice donor variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GPathogenic
Select item 2493394	NM_005869.4(CWC27):c.356G>A (p.Arg119Gln)	CWC27 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425429	NC_000005.9:g.(?_64267510)_(64273085_?)dup	CWC27	Duplication	not provided	GLikely pathogenic
Select item 2425428	NC_000005.9:g.(?_64064974)_(64181393_?)dup	CWC27	Duplication	not provided	GUncertain significance
Select item 2425427	NC_000005.9:g.(?_64096055)_(64100233_?)del	CWC27	Deletion	not provided	GPathogenic
Select item 2425426	NC_000005.9:g.(?_64077728)_(64096174_?)del	CWC27	Deletion	not provided	GPathogenic
Select item 2425425	NC_000005.9:g.(?_64064974)_(64181393_?)del	CWC27	Deletion	not provided	GPathogenic
Select item 2425424	NC_000005.9:g.(?_64064974)_(64100233_?)del	CWC27	Deletion	not provided	GPathogenic
Select item 2420253	NM_005869.4(CWC27):c.268C>T (p.Arg90Trp)	CWC27 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419853	NM_005869.4(CWC27):c.890T>C (p.Val297Ala)	CWC27 (V297A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2368605	NM_005869.4(CWC27):c.1100A>G (p.Tyr367Cys)	CWC27 (Y367C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304730	NM_005869.4(CWC27):c.219T>G (p.Ser73Arg)	CWC27 (S73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187288	NM_005869.4(CWC27):c.918GAA[1] (p.Lys308del)	CWC27 (K308del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2176154	NM_005869.4(CWC27):c.935G>A (p.Arg312His)	CWC27 (R312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164776	NM_005869.4(CWC27):c.242C>T (p.Ala81Val)	CWC27 (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150347	NM_005869.4(CWC27):c.56C>G (p.Thr19Ser)	CWC27 (T19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146929	NM_005869.4(CWC27):c.1120C>T (p.Gln374Ter)	CWC27 (Q374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2134683	NM_005869.4(CWC27):c.1116G>C (p.Lys372Asn)	CWC27 (K372N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133137	NM_005869.4(CWC27):c.1081A>G (p.Arg361Gly)	CWC27 (R361G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127977	NM_005869.4(CWC27):c.847G>A (p.Glu283Lys)	CWC27 (E283K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123598	NM_005869.4(CWC27):c.1403A>G (p.Lys468Arg)	CWC27 (K468R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2121942	NM_005869.4(CWC27):c.509C>T (p.Pro170Leu)	CWC27 (P170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121449	NM_005869.4(CWC27):c.1401G>C (p.Glu467Asp)	CWC27 (E467D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2115560	NM_005869.4(CWC27):c.1189A>G (p.Thr397Ala)	CWC27 (T397A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113204	NM_005869.4(CWC27):c.1011T>C (p.Asn337=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109716	NM_005869.4(CWC27):c.780+18T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106168	NM_005869.4(CWC27):c.289G>A (p.Gly97Arg)	CWC27 (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104347	NM_005869.4(CWC27):c.763G>A (p.Ala255Thr)	CWC27 (A255T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103908	NM_005869.4(CWC27):c.42+1G>A	CWC27, LOC123493324	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2098034	NM_005869.4(CWC27):c.969A>G (p.Leu323=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096194	NM_005869.4(CWC27):c.543G>C (p.Arg181Ser)	CWC27 (R181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068425	NM_005869.4(CWC27):c.255T>A (p.Asp85Glu)	CWC27 (D85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067358	NM_005869.4(CWC27):c.481A>G (p.Ile161Val)	CWC27 (I161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066826	NM_005869.4(CWC27):c.301A>G (p.Met101Val)	CWC27 (M101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066760	NM_005869.4(CWC27):c.1395G>A (p.Met465Ile)	CWC27 (M465I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2061233	NM_005869.4(CWC27):c.42+8C>T	LOC123493324, CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054549	NM_005869.4(CWC27):c.1043-16T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039043	NM_005869.4(CWC27):c.749+1G>T	CWC27	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2029917	NM_005869.4(CWC27):c.466C>T (p.His156Tyr)	CWC27 (H156Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025547	NM_005869.4(CWC27):c.670-15G>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023736	NM_005869.4(CWC27):c.829G>T (p.Glu277Ter)	CWC27 (E277*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2013633	NM_005869.4(CWC27):c.33G>A (p.Thr11=)	CWC27, LOC123493324	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007317	NM_005869.4(CWC27):c.1152+5C>T	CWC27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007081	NM_005869.4(CWC27):c.1170C>G (p.Asn390Lys)	CWC27 (N390K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005265	NM_005869.4(CWC27):c.762T>C (p.Asp254=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005264	NM_005869.4(CWC27):c.939-10del	CWC27	Deletion (intron variant)	not provided	GBenign
Select item 2001186	NM_005869.4(CWC27):c.449A>T (p.Asp150Val)	CWC27 (D150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999483	NM_005869.4(CWC27):c.43-18G>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995255	NM_005869.4(CWC27):c.461G>A (p.Arg154Lys)	CWC27 (R154K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995164	NM_005869.4(CWC27):c.1256+18T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989468	NM_005869.4(CWC27):c.281A>C (p.Asn94Thr)	CWC27 (N94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978499	NM_005869.4(CWC27):c.60A>C (p.Thr20=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977231	NM_005869.4(CWC27):c.600-16C>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974708	NM_005869.4(CWC27):c.413T>C (p.Val138Ala)	CWC27 (V138A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973489	NM_005869.4(CWC27):c.1168A>G (p.Asn390Asp)	CWC27 (N390D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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