CLTC[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2858910	NM_004859.4(CLTC):c.4G>C (p.Ala2Pro)	CLTC (A2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552762	NM_004859.4(CLTC):c.18A>C (p.Pro6=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2429634	NM_004859.4(CLTC):c.22C>G (p.Arg8Gly)	CLTC (R8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131360	NM_004859.4(CLTC):c.24T>C (p.Arg8=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977239	NM_004859.4(CLTC):c.27T>C (p.Phe9=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824488	NM_004859.4(CLTC):c.30G>A (p.Gln10=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416984	NM_004859.4(CLTC):c.42+4C>A	CLTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2135235	NM_004859.4(CLTC):c.42+9G>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491110	NM_004859.4(CLTC):c.42+12_42+32del	CLTC	Deletion (intron variant)	not provided	GUncertain significance
Select item 1608610	NM_004859.4(CLTC):c.42+12C>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659168	NM_004859.4(CLTC):c.42+13C>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055493	NM_004859.4(CLTC):c.42+17G>A	CLTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2125988	NM_004859.4(CLTC):c.43-18T>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599171	NM_004859.4(CLTC):c.43-17C>A	CLTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2820781	NM_004859.4(CLTC):c.43-14A>C	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017154	NM_004859.4(CLTC):c.43-13T>C	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927556	NM_004859.4(CLTC):c.43C>G (p.Leu15Val)	CLTC (L15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547638	NM_004859.4(CLTC):c.52C>T (p.Leu18=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969841	NM_004859.4(CLTC):c.62A>G (p.Asn21Ser)	CLTC (N21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754183	NM_004859.4(CLTC):c.63C>T (p.Asn21=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899735	NM_004859.4(CLTC):c.78C>G (p.Gly26=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598933	NM_004859.4(CLTC):c.87C>T (p.Thr29=)	CLTC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2060831	NM_004859.4(CLTC):c.88C>T (p.Leu30=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1455678	NM_004859.4(CLTC):c.97G>T (p.Glu33Ter)	CLTC (E33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1338802	NM_004859.4(CLTC):c.111del (p.Phe37fs)	CLTC (F37fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2760364	NM_004859.4(CLTC):c.112A>G (p.Ile38Val)	CLTC (I38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988663	NM_004859.4(CLTC):c.117C>T (p.Cys39=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440152	NM_004859.4(CLTC):c.118A>G (p.Ile40Val)	CLTC (I40V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1536055	NM_004859.4(CLTC):c.121A>C (p.Arg41=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024950	NM_004859.4(CLTC):c.133G>T (p.Gly45Ter)	CLTC (G45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1938010	NM_004859.4(CLTC):c.141G>A (p.Gln47=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252348	NM_004859.4(CLTC):c.146A>G (p.Gln49Arg)	CLTC (Q49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604465	NM_004859.4(CLTC):c.156C>T (p.Ile52=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038453	NM_004859.4(CLTC):c.164T>C (p.Met55Thr)	CLTC (M55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484802	NM_004859.4(CLTC):c.187C>G (p.Arg63Gly)	CLTC (R63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816974	NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)	CLTC (R63*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56 +1 more	GPathogenic
Select item 1411189	NM_004859.4(CLTC):c.201A>G (p.Ser67=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305974	NM_004859.4(CLTC):c.202G>A (p.Ala68Thr)	CLTC (A68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544385	NM_004859.4(CLTC):c.210C>T (p.Ser70=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970311	NM_004859.4(CLTC):c.211G>A (p.Ala71Thr)	CLTC (A71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990787	NM_004859.4(CLTC):c.214A>G (p.Ile72Val)	CLTC (I72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899106	NM_004859.4(CLTC):c.231C>T (p.Ser77=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254969	NM_004859.4(CLTC):c.250+3A>G	CLTC (I85V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 2855637	NM_004859.4(CLTC):c.250+4T>C	CLTC (I85T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1641545	NM_004859.4(CLTC):c.250+5A>C	CLTC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919540	NM_004859.4(CLTC):c.250+11A>G	CLTC	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1978561	NM_004859.4(CLTC):c.250+14_250+15del	CLTC	Microsatellite (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2428292	NM_004859.4(CLTC):c.250+15G>T	CLTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2974966	NM_004859.4(CLTC):c.250+23C>T	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798989	NM_004859.4(CLTC):c.250+28A>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868638	NM_004859.4(CLTC):c.250+34_250+37del	CLTC	Deletion (intron variant)	not provided	GLikely benign
Select item 1652485	NM_004859.4(CLTC):c.251-19T>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899974	NM_004859.4(CLTC):c.251-17C>T	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996860	NM_004859.4(CLTC):c.251-15T>C	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769747	NM_004859.4(CLTC):c.261T>C (p.Thr87=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699175	NM_004859.4(CLTC):c.268A>T (p.Ile90Phe)	CLTC (I90F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906996	NM_004859.4(CLTC):c.321T>A (p.Asp107Glu)	CLTC (D107E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2063708	NM_004859.4(CLTC):c.326C>A (p.Thr109Asn)	CLTC (T109N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3236797	NM_004859.4(CLTC):c.346_347del (p.Leu116fs)	CLTC (L116fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2629897	NM_004859.4(CLTC):c.353C>T (p.Thr118Met)	CLTC (T118M +1 more)	Single nucleotide variant (missense variant)	CLTC-related disorder	GUncertain significance
Select item 1331669	NM_004859.4(CLTC):c.368C>T (p.Thr123Met)	CLTC (T123M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711442	NM_004859.4(CLTC):c.369G>A (p.Thr123=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2810376	NM_004859.4(CLTC):c.378A>G (p.Ala126=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718905	NM_004859.4(CLTC):c.379G>T (p.Val127Phe)	CLTC (V131F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749571	NM_004859.4(CLTC):c.385C>T (p.His129Tyr)	CLTC (H133Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2293521	NM_004859.4(CLTC):c.394A>G (p.Met132Val)	CLTC (M136V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030403	NM_004859.4(CLTC):c.397G>T (p.Glu133Ter)	CLTC (E133* +1 more)	Single nucleotide variant (nonsense)	CLTC-related disorder	GLikely pathogenic
Select item 2647985	NM_004859.4(CLTC):c.405G>A (p.Glu135=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721656	NM_004859.4(CLTC):c.412C>A (p.Pro138Thr)	CLTC (P138T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743923	NM_004859.4(CLTC):c.430C>T (p.Arg144Cys)	CLTC (R144C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985051	NM_004859.4(CLTC):c.469C>T (p.Arg157Cys)	CLTC (R157C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902893	NM_004859.4(CLTC):c.474A>G (p.Thr158=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146094	NM_004859.4(CLTC):c.485A>G (p.Gln162Arg)	CLTC (Q162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2087701	NM_004859.4(CLTC):c.489G>A (p.Lys163=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089331	NM_004859.4(CLTC):c.519+10_519+11insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTCAGGTGTGTTCTATTGGGAGCTGGGTGTGGGAGTGGGTGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACCTGCACAGGTAACATTTT	CLTC	Insertion (splice donor variant)	not provided	GUncertain significance
Select item 2097746	NM_004859.4(CLTC):c.512C>G (p.Ser171Cys)	CLTC (S175C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217356	NM_004859.4(CLTC):c.519+16T>G	CLTC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1596347	NM_004859.4(CLTC):c.520-8C>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661235	NM_004859.4(CLTC):c.520-4A>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682577	NM_004859.4(CLTC):c.525T>C (p.Asn175=)	CLTC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1468305	NM_004859.4(CLTC):c.527G>A (p.Arg176His)	CLTC (R176H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550288	NM_004859.4(CLTC):c.549A>G (p.Leu183=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472221	NM_004859.4(CLTC):c.554C>T (p.Ser185Phe)	CLTC (S189F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707145	NM_004859.4(CLTC):c.556G>A (p.Val186Ile)	CLTC (V186I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546551	NM_004859.4(CLTC):c.561T>C (p.Asp187=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552129	NM_004859.4(CLTC):c.562A>C (p.Arg188=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335835	NM_004859.4(CLTC):c.562A>G (p.Arg188Gly)	CLTC (R188G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010608	NM_004859.4(CLTC):c.567A>G (p.Lys189=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847529	NM_004859.4(CLTC):c.594A>G (p.Ala198=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146095	NM_004859.4(CLTC):c.602T>C (p.Phe201Ser)	CLTC (F201S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808302	NM_004859.4(CLTC):c.609G>A (p.Gln203=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2499794	NM_004859.4(CLTC):c.625A>G (p.Asn209Asp)	CLTC (N209D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412978	NM_004859.4(CLTC):c.626A>G (p.Asn209Ser)	CLTC (N209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337917	NM_004859.4(CLTC):c.630del (p.Glu211fs)	CLTC (E211fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2964897	NM_004859.4(CLTC):c.636A>G (p.Glu212=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229887	NM_004859.4(CLTC):c.637T>A (p.Ser213Thr)	CLTC (S213T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496737	NM_004859.4(CLTC):c.640A>G (p.Thr214Ala)	CLTC (T218A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659918	NM_004859.4(CLTC):c.642G>A (p.Thr214=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629118	NM_004859.4(CLTC):c.642G>C (p.Thr214=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669622	NM_004859.4(CLTC):c.654T>C (p.Phe218=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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