ClinVar for MedGen (Select 1638835) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3237525	NM_004859.4(CLTC):c.4080A>C (p.Glu1360Asp)	CLTC, LOC126862609 (E1360D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	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 3066075	NM_004859.4(CLTC):c.4686_4687del (p.Glu1564fs)	CLTC (E1564fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3066041	NM_004859.4(CLTC):c.3049_3050del (p.Val1017fs)	CLTC (V1017fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3063567	NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)	CLTC (Y608* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2690891	NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)	CLTC (A1114fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 2664847	NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)	CLTC, LOC126862609 (F1471del +1 more)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2663814	NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)	CLTC (M1302fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2626759	NM_004859.4(CLTC):c.3249+1G>C	CLTC	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 2573029	NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)	CLTC (S659* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 2572399	NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)	CLTC (L1217del +1 more)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2498337	NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)	CLTC, LOC125177523 (K1535fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 2444112	NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)	CLTC (Y285C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 2441722	NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro)	CLTC (L970P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 2440153	NM_004859.4(CLTC):c.1196G>A (p.Arg399His)	CLTC (R399H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
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 2440151	NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu)	CLTC (P485L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 2431512	NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)	CLTC (R1165* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1992348	NM_004859.4(CLTC):c.2438del (p.Pro813fs)	CLTC (P817fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1898989	NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)	CLTC (T582M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1895389	NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter)	CLTC (L633* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1806073	NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)	CLTC (A1269P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1805692	NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)	CLTC (A864T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1804927	NM_004859.4(CLTC):c.4605+3T>A	CLTC, LOC125177523	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 1710450	NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)	CLTC (I699fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1709294	NM_004859.4(CLTC):c.3779G>A (p.Cys1260Tyr)	CLTC (C1260Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1705596	NM_004859.4(CLTC):c.2562-1G>C	CLTC	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1696719	NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser)	CLTC (N761S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1696463	NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)	CLTC (S1080* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1685642	NM_004859.4(CLTC):c.3765+1G>A	CLTC	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1685641	NM_004859.4(CLTC):c.2023A>G (p.Ile675Val)	CLTC (I675V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1527930	NM_004859.4(CLTC):c.3766-13_3766-5del	CLTC	Deletion (intron variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1527908	NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter)	CLTC (L1157* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1513351	NM_004859.4(CLTC):c.4904-4G>A	CLTC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1481466	NM_004859.4(CLTC):c.4774A>G (p.Met1592Val)	CLTC (M1592V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +2 more	GConflicting classifications of pathogenicity
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 1333846	NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr)	CLTC (I1089T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 1333845	NM_004859.4(CLTC):c.1013T>C (p.Ile338Thr)	CLTC (I338T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 1320245	NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)	CLTC (Y1574* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 1283912	NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer)	CLTC	Deletion (frameshift variant)	Autosomal dominant non-syndromic intellectual disability +1 more	GPathogenic
Select item 1254560	NM_004859.4(CLTC):c.2517A>G (p.Gln839=)	CLTC	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1217357	NM_004859.4(CLTC):c.2293-26T>C	CLTC	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 56	GBenign
Select item 1217356	NM_004859.4(CLTC):c.519+16T>G	CLTC	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 56 +1 more	GBenign
Select item 1213790	NM_004859.4(CLTC):c.2503G>A (p.Val835Ile)	CLTC (V835I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 1199220	NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu)	CLTC (S378L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 1029302	NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter)	CLTC, LOC125177523 (Y1534* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 1029301	NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala)	CLTC (T394A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 988734	NM_004859.4(CLTC):c.3611del (p.Arg1204fs)	CLTC (R1204fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 984653	NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs)	CLTC (R625fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 977742	NC_000017.11:g.59679324_59702065del	CLTC, LOC125177523 +3 more	Deletion	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 973763	NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs)	CLTC (L943fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 932132	NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu)	CLTC (Q531L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	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 811442	NC_000017.11:g.59664787del	CLTC	Deletion	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 808303	NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)	CLTC (I780del +1 more)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 56 +1 more	GConflicting classifications of pathogenicity
Select item 803445	NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser)	CLTC (I1133S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 786952	NM_004859.4(CLTC):c.2797-9C>T	CLTC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 689651	NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys)	CLTC (R399C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 560225	NM_004859.4(CLTC):c.4388_4389del (p.Val1463fs)	CLTC, LOC126862609 (V1463fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 560224	NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln)	MMP20 (R380Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 521501	NM_004859.4(CLTC):c.3137G>A (p.Arg1046His)	CLTC (R1046H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 488420	NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter)	CLTC (Q1555* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 488419	NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro)	CLTC (L1047P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 488418	NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)	CLTC (P890L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56 +1 more	GPathogenic/Likely pathogenic
Select item 488417	NM_004859.4(CLTC):c.977_980del (p.Ser326fs)	CLTC (S326fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 488416	NM_004859.4(CLTC):c.4575dup (p.Glu1526fs)	CLTC, LOC125177523 (E1530fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 208688	NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs)	CLTC (D913fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic

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Items: 68