TTLL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	ARPC4, ARPC4-TTLL3 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 2338805	NM_001025930.5(TTLL3):c.71C>A (p.Ser24Tyr)	ARPC4-TTLL3, LOC129936138 +1 more (S24Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184587	NM_001025930.5(TTLL3):c.104A>C (p.Asn35Thr)	ARPC4-TTLL3, LOC129936138 +1 more (N35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216041	NM_001025930.5(TTLL3):c.118C>G (p.Pro40Ala)	ARPC4-TTLL3, LOC129936138 +1 more (P40A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216042	NM_001025930.5(TTLL3):c.119C>A (p.Pro40Gln)	ARPC4-TTLL3, LOC129936138 +1 more (P40Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521832	NM_001025930.5(TTLL3):c.130G>A (p.Glu44Lys)	ARPC4-TTLL3, LOC129936138 +1 more (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184589	NM_001025930.5(TTLL3):c.185G>A (p.Arg62Lys)	ARPC4-TTLL3, LOC129936138 +1 more (R62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212011	NM_001025930.5(TTLL3):c.238G>A (p.Gly80Ser)	ARPC4-TTLL3, LOC129936138 +1 more (G80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184592	NM_001025930.5(TTLL3):c.239G>T (p.Gly80Val)	ARPC4-TTLL3, LOC129936138 +1 more (G80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333670	NM_001387446.1(TTLL3):c.-168G>A	ARPC4-TTLL3, LOC129936138 +1 more (A88T)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2250564	NM_001387446.1(TTLL3):c.-153C>T	ARPC4-TTLL3, LOC129936138 +1 more (L93F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2361077	NM_001387446.1(TTLL3):c.-134C>T	ARPC4-TTLL3, LOC129936138 +1 more (T99M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3184594	NM_001387446.1(TTLL3):c.-89C>T	ARPC4-TTLL3, LOC129936138 +1 more (P114L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2521284	NM_001387446.1(TTLL3):c.-87C>T	ARPC4-TTLL3, LOC129936138 +1 more (L115F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3184595	NM_001387446.1(TTLL3):c.-84G>A	ARPC4-TTLL3, LOC129936138 +1 more (G116S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2360177	NM_001387446.1(TTLL3):c.-77C>T	ARPC4-TTLL3, LOC129936138 +1 more (P118L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2543369	NM_001387446.1(TTLL3):c.-20G>A	ARPC4-TTLL3, TTLL3 (G137E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3184596	NM_001387446.1(TTLL3):c.40G>A (p.Ala14Thr)	ARPC4-TTLL3, TTLL3 (A62T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3129789	NM_001387446.1(TTLL3):c.89T>C (p.Ile30Thr)	ARPC4-TTLL3, TTLL3 (I124T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129790	NM_001387446.1(TTLL3):c.91C>T (p.Arg31Trp)	ARPC4-TTLL3, TTLL3 (R125W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129791	NM_001387446.1(TTLL3):c.104G>A (p.Arg35His)	ARPC4-TTLL3, TTLL3 (R35H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129792	NM_001387446.1(TTLL3):c.197A>G (p.Asp66Gly)	ARPC4-TTLL3, TTLL3 (D114G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129793	NM_001387446.1(TTLL3):c.200G>A (p.Ser67Asn)	ARPC4-TTLL3, TTLL3 (S66N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129794	NM_001387446.1(TTLL3):c.237G>C (p.Glu79Asp)	ARPC4-TTLL3, TTLL3 (E173D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129795	NM_001387446.1(TTLL3):c.298G>A (p.Gly100Arg)	ARPC4-TTLL3, TTLL3 (G148R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129796	NM_001387446.1(TTLL3):c.302C>T (p.Thr101Ile)	ARPC4-TTLL3, TTLL3 (T149I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298497	NM_001387446.1(TTLL3):c.466C>T (p.Arg156Trp)	ARPC4-TTLL3, TTLL3 (R256W +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3129797	NM_001387446.1(TTLL3):c.476C>T (p.Pro159Leu)	ARPC4-TTLL3, TTLL3 (P210L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2240991	NM_001387446.1(TTLL3):c.584G>T (p.Arg195Leu)	ARPC4-TTLL3, TTLL3 (R151L +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3129798	NM_001387446.1(TTLL3):c.760G>C (p.Ala254Pro)	ARPC4-TTLL3, TTLL3 (A211P +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129799	NM_001387446.1(TTLL3):c.775G>A (p.Asp259Asn)	ARPC4-TTLL3, TTLL3 (D183N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129800	NM_001387446.1(TTLL3):c.791C>T (p.Ala264Val)	ARPC4-TTLL3, TTLL3 (A220V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129801	NM_001387446.1(TTLL3):c.845A>G (p.Gln282Arg)	ARPC4-TTLL3, TTLL3 (Q238R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777374	NM_001387446.1(TTLL3):c.855C>T (p.His285=)	ARPC4-TTLL3, TTLL3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3129756	NM_001387446.1(TTLL3):c.956A>G (p.Asp319Gly)	ARPC4-TTLL3, TTLL3 (D243G +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129757	NM_001387446.1(TTLL3):c.997G>A (p.Gly333Arg)	ARPC4-TTLL3, TTLL3 (G257R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780374	NM_001387446.1(TTLL3):c.1004-4G>A	ARPC4-TTLL3, TTLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3129758	NM_001387446.1(TTLL3):c.1012T>C (p.Cys338Arg)	ARPC4-TTLL3, TTLL3 (C295R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129759	NM_001387446.1(TTLL3):c.1034T>C (p.Met345Thr)	ARPC4-TTLL3, TTLL3 (M360T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405090	NM_001387446.1(TTLL3):c.1035G>A (p.Met345Ile)	ARPC4-TTLL3, TTLL3 (M301I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129760	NM_001387446.1(TTLL3):c.1056C>A (p.Asn352Lys)	ARPC4-TTLL3, TTLL3 (N319K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129761	NM_001387446.1(TTLL3):c.1106G>A (p.Arg369Gln)	ARPC4-TTLL3, TTLL3 (R469Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129762	NM_001387446.1(TTLL3):c.1171C>G (p.Pro391Ala)	ARPC4-TTLL3, TTLL3 (P136A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129763	NM_001387446.1(TTLL3):c.1192C>T (p.Arg398Cys)	ARPC4-TTLL3, TTLL3 (R143C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129764	NM_001387446.1(TTLL3):c.1193G>A (p.Arg398His)	ARPC4-TTLL3, TTLL3 (R234H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129765	NM_001387446.1(TTLL3):c.1195G>A (p.Asp399Asn)	ARPC4-TTLL3, TTLL3 (D144N +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129766	NM_001387446.1(TTLL3):c.1207C>T (p.Arg403Cys)	ARPC4-TTLL3, TTLL3 (R148C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129767	NM_001387446.1(TTLL3):c.1208G>A (p.Arg403His)	ARPC4-TTLL3, TTLL3 (R359H +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129768	NM_001387446.1(TTLL3):c.1217C>T (p.Thr406Met)	ARPC4-TTLL3, TTLL3 (T373M +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129769	NM_001387446.1(TTLL3):c.1261T>C (p.Cys421Arg)	ARPC4-TTLL3, TTLL3 (C345R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129770	NM_001387446.1(TTLL3):c.1288G>C (p.Glu430Gln)	ARPC4-TTLL3, TTLL3 (E387Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129772	NM_001387446.1(TTLL3):c.1304G>A (p.Arg435Gln)	ARPC4-TTLL3, TTLL3 (R180Q +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129773	NM_001387446.1(TTLL3):c.1309C>T (p.Pro437Ser)	ARPC4-TTLL3, TTLL3 (P361S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129774	NM_001387446.1(TTLL3):c.1331T>C (p.Met444Thr)	ARPC4-TTLL3, TTLL3 (M368T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129775	NM_001387446.1(TTLL3):c.1391C>A (p.Ser464Tyr)	ARPC4-TTLL3, TTLL3 (S300Y +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602155	NM_001387446.1(TTLL3):c.1492G>A (p.Ala498Thr)	ARPC4-TTLL3, TTLL3 (A442T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129776	NM_001387446.1(TTLL3):c.1501G>A (p.Val501Met)	ARPC4-TTLL3, TTLL3 (V412M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129777	NM_001387446.1(TTLL3):c.1543G>A (p.Ala515Thr)	ARPC4-TTLL3, TTLL3 (A459T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129778	NM_001387446.1(TTLL3):c.1548C>A (p.Ser516Arg)	ARPC4-TTLL3, TTLL3 (S472R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129779	NM_001387446.1(TTLL3):c.1577C>A (p.Thr526Asn)	ARPC4-TTLL3, TTLL3 (T271N +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129780	NM_001387446.1(TTLL3):c.1595G>C (p.Gly532Ala)	ARPC4-TTLL3, TTLL3 (G277A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129782	NM_001387446.1(TTLL3):c.1597G>A (p.Val533Met)	ARPC4-TTLL3, TTLL3 (V369M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129783	NM_001387446.1(TTLL3):c.1615C>T (p.Arg539Cys)	ARPC4-TTLL3, TTLL3 (R284C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129784	NM_001387446.1(TTLL3):c.1642C>T (p.Arg548Cys)	ARPC4-TTLL3, TTLL3 (R384C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129786	NM_001387446.1(TTLL3):c.1643G>C (p.Arg548Pro)	ARPC4-TTLL3, TTLL3 (R505P +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129785	NM_001387446.1(TTLL3):c.1643G>A (p.Arg548His)	ARPC4-TTLL3, TTLL3 (R293H +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594010	NM_001387446.1(TTLL3):c.1649G>C (p.Cys550Ser)	ARPC4-TTLL3, TTLL3 (C386S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129787	NM_001387446.1(TTLL3):c.1658G>C (p.Gly553Ala)	ARPC4-TTLL3, TTLL3 (G298A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129788	NM_001387446.1(TTLL3):c.1672A>G (p.Ile558Val)	ARPC4-TTLL3, TTLL3 (I514V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328648	NM_001387446.1(TTLL3):c.1690G>A (p.Val564Met)	ARPC4-TTLL3, TTLL3 (V531M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184590	NM_001387446.1(TTLL3):c.1717C>T (p.Arg573Trp)	ARPC4-TTLL3, TTLL3 (R318W +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184591	NM_001387446.1(TTLL3):c.1772G>A (p.Arg591Gln)	ARPC4-TTLL3, TTLL3 (R336Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371258	NM_001387446.1(TTLL3):c.1784G>A (p.Arg595His)	ARPC4-TTLL3, TTLL3 (R340H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473262	NM_001387446.1(TTLL3):c.1828C>T (p.Arg610Cys)	ARPC4-TTLL3, TTLL3 (P586L +7 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2254126	NM_001387446.1(TTLL3):c.1851C>T (p.His617=)	ARPC4-TTLL3, TTLL3 (T527I +13 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2354072	NM_001387446.1(TTLL3):c.1906A>G (p.Arg636Gly)	ARPC4-TTLL3, TTLL3 (R677G +7 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2289437	NM_001387446.1(TTLL3):c.1950C>G (p.Thr650=)	ARPC4-TTLL3, TTLL3 (P421R +10 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2220022	NM_001387446.1(TTLL3):c.1973T>C (p.Leu658Pro)	ARPC4-TTLL3, TTLL3 (L699P +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2250165	NM_001387446.1(TTLL3):c.1999C>T (p.Leu667Phe)	ARPC4-TTLL3, TTLL3 (L591F +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign

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