TTLL5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 58332	GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3	BATF, ERG28 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1401255	NM_015072.5(TTLL5):c.4C>G (p.Pro2Ala)	TTLL5 (P2A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569948	NM_015072.5(TTLL5):c.9C>T (p.Ile3=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470092	NM_015072.5(TTLL5):c.9C>G (p.Ile3Met)	TTLL5 (I3M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374971	NM_015072.5(TTLL5):c.13A>T (p.Met5Leu)	TTLL5 (M5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 968919	NM_015072.5(TTLL5):c.25C>G (p.Leu9Val)	TTLL5 (L9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488165	NM_015072.5(TTLL5):c.27G>A (p.Leu9=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971089	NM_015072.5(TTLL5):c.40T>C (p.Ser14Pro)	TTLL5 (S14P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015089	NM_015072.5(TTLL5):c.51G>C (p.Glu17Asp)	TTLL5 (E17D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2115350	NM_015072.5(TTLL5):c.52G>A (p.Asp18Asn)	TTLL5 (D18N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934114	NM_015072.5(TTLL5):c.53A>G (p.Asp18Gly)	TTLL5 (D18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847518	NM_015072.5(TTLL5):c.56AGG[1] (p.Glu20del)	TTLL5 (E20del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1062220	NM_015072.5(TTLL5):c.60G>T (p.Glu20Asp)	TTLL5 (E20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964898	NM_015072.5(TTLL5):c.74+3A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1046377	NM_015072.5(TTLL5):c.74+6T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2094191	NM_015072.5(TTLL5):c.74+18T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034540	NM_015072.5(TTLL5):c.75-12_75-11del	TTLL5	Deletion (intron variant)	not provided	GLikely benign
Select item 1936662	NM_015072.5(TTLL5):c.75-10G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1148014	NM_015072.5(TTLL5):c.75-8C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013828	NM_015072.5(TTLL5):c.75-6T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1166457	NM_015072.5(TTLL5):c.75-3T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 972636	NM_015072.5(TTLL5):c.75-2A>G	TTLL5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2075053	NM_015072.5(TTLL5):c.77A>G (p.Asp26Gly)	TTLL5 (D26G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415232	NM_015072.5(TTLL5):c.86G>A (p.Cys29Tyr)	TTLL5 (C29Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011024	NM_015072.5(TTLL5):c.92T>C (p.Met31Thr)	TTLL5 (M31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2693054	NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)	TTLL5 (W32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2081118	NM_015072.5(TTLL5):c.100G>A (p.Gly34Arg)	TTLL5 (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937026	NM_015072.5(TTLL5):c.103G>A (p.Gly35Ser)	TTLL5 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330015	NM_015072.5(TTLL5):c.112A>G (p.Arg38Gly)	TTLL5 (R38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967544	NM_015072.5(TTLL5):c.127G>T (p.Val43Leu)	TTLL5 (V43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111968	NM_015072.5(TTLL5):c.129A>G (p.Val43=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656059	NM_015072.5(TTLL5):c.138C>T (p.Ala46=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965130	NM_015072.5(TTLL5):c.139G>T (p.Asp47Tyr)	TTLL5 (D47Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782717	NM_015072.5(TTLL5):c.141C>T (p.Asp47=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921591	NM_015072.5(TTLL5):c.155del (p.Lys52fs)	TTLL5 (K52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1941715	NM_015072.5(TTLL5):c.162C>T (p.Asn54=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018697	NM_015072.5(TTLL5):c.172G>T (p.Val58Leu)	TTLL5 (V58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2097638	NM_015072.5(TTLL5):c.174A>G (p.Val58=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369685	NM_015072.5(TTLL5):c.181G>A (p.Glu61Lys)	TTLL5 (E61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773723	NM_015072.5(TTLL5):c.181+4C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 953711	NM_015072.5(TTLL5):c.181+5G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919810	NM_015072.5(TTLL5):c.181+7A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070358	NM_015072.5(TTLL5):c.181+9A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803846	NM_015072.5(TTLL5):c.181+18C>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601408	NM_015072.5(TTLL5):c.181+18C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186754	NM_015072.5(TTLL5):c.181+23A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658522	NM_015072.5(TTLL5):c.182-17A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577135	NM_015072.5(TTLL5):c.182-11T>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132906	NM_015072.5(TTLL5):c.182-4T>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1363887	NM_015072.5(TTLL5):c.184C>T (p.Arg62Cys)	TTLL5 (R62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1139569	NM_015072.5(TTLL5):c.189T>C (p.Tyr63=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406317	NM_015072.5(TTLL5):c.190C>A (p.His64Asn)	TTLL5 (H64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715656	NM_015072.5(TTLL5):c.200A>G (p.Tyr67Cys)	TTLL5 (Y67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 959807	NM_015072.5(TTLL5):c.208G>T (p.Val70Leu)	TTLL5 (V70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493147	NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter)	TTLL5 (R71*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2541175	NM_015072.5(TTLL5):c.212G>T (p.Arg71Leu)	TTLL5 (R71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 958299	NM_015072.5(TTLL5):c.212G>A (p.Arg71Gln)	TTLL5 (R71Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020851	NM_015072.5(TTLL5):c.218A>G (p.Asp73Gly)	TTLL5 (D73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999195	NM_015072.5(TTLL5):c.224G>A (p.Arg75His)	TTLL5 (R75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511935	NM_015072.5(TTLL5):c.232C>T (p.Arg78Cys)	TTLL5 (R78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998672	NM_015072.5(TTLL5):c.233G>A (p.Arg78His)	TTLL5 (R78H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1566196	NM_015072.5(TTLL5):c.258T>C (p.Phe86=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019822	NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)	TTLL5 (E88fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1461447	NM_015072.5(TTLL5):c.260A>G (p.His87Arg)	TTLL5 (H87R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989035	NM_015072.5(TTLL5):c.264A>G (p.Glu88=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1200580	NM_015072.5(TTLL5):c.264+1G>A	TTLL5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2044106	NM_015072.5(TTLL5):c.264+18A>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590252	NM_015072.5(TTLL5):c.264+20C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236402	NM_015072.5(TTLL5):c.265-63T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279440	NM_015072.5(TTLL5):c.265-47G>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990284	NM_015072.5(TTLL5):c.265-19T>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963020	NM_015072.5(TTLL5):c.265-18C>T	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960148	NM_015072.5(TTLL5):c.265-12G>A	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789017	NM_015072.5(TTLL5):c.265-12G>C	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586073	NM_015072.5(TTLL5):c.265-10C>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168316	NM_015072.5(TTLL5):c.265-5del	TTLL5	Deletion (intron variant)	not provided	GBenign
Select item 2085574	NM_015072.5(TTLL5):c.265-3C>G	TTLL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999021	NM_015072.5(TTLL5):c.273A>G (p.Pro91=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046378	NM_015072.5(TTLL5):c.274A>G (p.Ser92Gly)	TTLL5 (S92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506724	NM_015072.5(TTLL5):c.275G>A (p.Ser92Asn)	TTLL5 (S92N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493056	NM_015072.5(TTLL5):c.278G>C (p.Ser93Thr)	TTLL5 (S93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145936	NM_015072.5(TTLL5):c.287A>G (p.Tyr96Cys)	TTLL5 (Y96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961615	NM_015072.5(TTLL5):c.296T>C (p.Met99Thr)	TTLL5 (M99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1363833	NM_015072.5(TTLL5):c.301A>C (p.Thr101Pro)	TTLL5 (T101P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036511	NM_015072.5(TTLL5):c.311A>G (p.His104Arg)	TTLL5 (H104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742587	NM_015072.5(TTLL5):c.313C>T (p.Leu105=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005240	NM_015072.5(TTLL5):c.319C>G (p.Pro107Ala)	TTLL5 (P107A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938216	NM_015072.5(TTLL5):c.331C>A (p.Arg111Ser)	TTLL5 (R111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960528	NM_015072.5(TTLL5):c.332G>A (p.Arg111His)	TTLL5 (R111H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956468	NM_015072.5(TTLL5):c.333C>T (p.Arg111=)	TTLL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377439	NM_015072.5(TTLL5):c.337C>G (p.Leu113Val)	TTLL5 (L113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644375	NM_015072.5(TTLL5):c.338T>G (p.Leu113Arg)	TTLL5 (L113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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