ClinVar for Gene (Select 9654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330012	NM_014640.5(TTLL4):c.1217C>A (p.Thr406Asn)	TTLL4 (T406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330011	NM_014640.5(TTLL4):c.2828A>C (p.Glu943Ala)	TTLL4 (E943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330010	NM_014640.5(TTLL4):c.1801T>C (p.Trp601Arg)	LOC126806512, TTLL4 (W601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330009	NM_014640.5(TTLL4):c.320C>T (p.Ser107Phe)	TTLL4 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330008	NM_014640.5(TTLL4):c.2455G>A (p.Glu819Lys)	LOC126806513, TTLL4 (E819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330007	NM_014640.5(TTLL4):c.1250A>G (p.Lys417Arg)	TTLL4 (K417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330006	NM_014640.5(TTLL4):c.3310A>G (p.Asn1104Asp)	TTLL4 (N1104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330005	NM_014640.5(TTLL4):c.3448A>G (p.Ser1150Gly)	TTLL4 (S1150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330004	NM_014640.5(TTLL4):c.662C>G (p.Ser221Cys)	TTLL4 (S221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330003	NM_014640.5(TTLL4):c.1775G>A (p.Arg592Gln)	LOC126806512, TTLL4 (R592Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330001	NM_014640.5(TTLL4):c.1303C>A (p.Pro435Thr)	TTLL4 (P435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247520	NC_000002.11:g.(?_219524871)_(219679753_?)del	BCS1L, CYP27A1 +3 more	Deletion	not provided	GPathogenic
Select item 3184618	NM_014640.5(TTLL4):c.992C>G (p.Thr331Ser)	TTLL4 (T331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184617	NM_014640.5(TTLL4):c.742C>A (p.Gln248Lys)	TTLL4 (Q248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184616	NM_014640.5(TTLL4):c.585G>T (p.Lys195Asn)	TTLL4 (K195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184615	NM_014640.5(TTLL4):c.409C>T (p.Arg137Cys)	TTLL4 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184613	NM_014640.5(TTLL4):c.3594C>G (p.Ser1198Arg)	TTLL4 (S1198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184612	NM_014640.5(TTLL4):c.358C>T (p.Arg120Cys)	TTLL4 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184611	NM_014640.5(TTLL4):c.3556A>T (p.Thr1186Ser)	TTLL4 (T1186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184610	NM_014640.5(TTLL4):c.337A>G (p.Asn113Asp)	TTLL4 (N113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184609	NM_014640.5(TTLL4):c.2857A>G (p.Ser953Gly)	TTLL4 (S953G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184608	NM_014640.5(TTLL4):c.2750C>T (p.Ser917Phe)	TTLL4 (S917F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184606	NM_014640.5(TTLL4):c.2612A>T (p.Tyr871Phe)	TTLL4 (Y871F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184605	NM_014640.5(TTLL4):c.2593A>G (p.Ile865Val)	TTLL4 (I865V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184604	NM_014640.5(TTLL4):c.2579T>A (p.Val860Asp)	TTLL4 (V860D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184603	NM_014640.5(TTLL4):c.2557A>G (p.Ile853Val)	TTLL4 (I853V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184602	NM_014640.5(TTLL4):c.1816T>A (p.Leu606Met)	LOC126806512, TTLL4 (L606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184601	NM_014640.5(TTLL4):c.1774C>T (p.Arg592Trp)	LOC126806512, TTLL4 (R592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184600	NM_014640.5(TTLL4):c.1393G>A (p.Val465Met)	TTLL4 (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184599	NM_014640.5(TTLL4):c.1369C>T (p.Pro457Ser)	TTLL4 (P457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184598	NM_014640.5(TTLL4):c.1055C>T (p.Pro352Leu)	TTLL4 (P352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2615546	NM_014640.5(TTLL4):c.1763A>G (p.Tyr588Cys)	LOC126806512, TTLL4 (Y588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610039	NM_014640.5(TTLL4):c.3131A>C (p.Tyr1044Ser)	TTLL4 (Y1044S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601695	NM_014640.5(TTLL4):c.728C>T (p.Ser243Leu)	TTLL4 (S243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601589	NM_014640.5(TTLL4):c.868G>A (p.Ala290Thr)	TTLL4 (A290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601585	NM_014640.5(TTLL4):c.1637G>C (p.Ser546Thr)	TTLL4 (S546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2552768	NM_014640.5(TTLL4):c.1133G>A (p.Arg378Gln)	TTLL4 (R378Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2544711	NM_014640.5(TTLL4):c.1829A>C (p.Lys610Thr)	LOC126806512, TTLL4 (K610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542914	NM_014640.5(TTLL4):c.2680A>G (p.Ile894Val)	TTLL4 (I894V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525329	NM_014640.5(TTLL4):c.3502A>G (p.Thr1168Ala)	TTLL4 (T1168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512517	NM_014640.5(TTLL4):c.2050C>T (p.Arg684Cys)	LOC126806513, TTLL4 (R684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510701	NM_014640.5(TTLL4):c.3529C>A (p.Gln1177Lys)	TTLL4 (Q1177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510055	NM_014640.5(TTLL4):c.3493T>G (p.Ser1165Ala)	TTLL4 (S1165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467980	NM_014640.5(TTLL4):c.3101G>A (p.Arg1034His)	TTLL4 (R1034H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460655	NM_014640.5(TTLL4):c.3109C>T (p.Arg1037Cys)	TTLL4 (R1037C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456210	NM_014640.5(TTLL4):c.2059A>G (p.Lys687Glu)	LOC126806513, TTLL4 (K687E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389113	NM_014640.5(TTLL4):c.380C>T (p.Pro127Leu)	TTLL4 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383081	NM_014640.5(TTLL4):c.1402C>T (p.Arg468Cys)	TTLL4 (R468C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371819	NM_014640.5(TTLL4):c.2984A>G (p.Tyr995Cys)	TTLL4 (Y995C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371297	NM_014640.5(TTLL4):c.3247T>G (p.Ser1083Ala)	TTLL4 (S1083A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368372	NM_014640.5(TTLL4):c.2692G>A (p.Glu898Lys)	TTLL4 (E898K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358959	NM_014640.5(TTLL4):c.1003C>T (p.Arg335Trp)	TTLL4 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348768	NM_014640.5(TTLL4):c.3202C>T (p.Arg1068Trp)	TTLL4 (R1068W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340827	NM_014640.5(TTLL4):c.3395C>T (p.Thr1132Met)	TTLL4 (T1132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340117	NM_014640.5(TTLL4):c.1694C>G (p.Ser565Cys)	LOC126806512, TTLL4 (S565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336007	NM_014640.5(TTLL4):c.3181C>T (p.Leu1061Phe)	TTLL4 (L1061F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315238	NM_014640.5(TTLL4):c.2500T>G (p.Trp834Gly)	TTLL4 (W834G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296153	NM_014640.5(TTLL4):c.857C>A (p.Ala286Asp)	TTLL4 (A286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278046	NM_014640.5(TTLL4):c.808G>T (p.Val270Leu)	TTLL4 (V270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275107	NM_014640.5(TTLL4):c.560C>T (p.Ala187Val)	TTLL4 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270937	NM_014640.5(TTLL4):c.41G>T (p.Arg14Leu)	TTLL4 (R14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256934	NM_014640.5(TTLL4):c.1004G>A (p.Arg335Gln)	TTLL4 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254900	NM_014640.5(TTLL4):c.2622C>G (p.Ser874Arg)	TTLL4 (S874R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242271	NM_014640.5(TTLL4):c.2741A>G (p.His914Arg)	TTLL4 (H914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239326	NM_014640.5(TTLL4):c.2143C>T (p.Arg715Cys)	LOC126806513, TTLL4 (R715C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235044	NM_014640.5(TTLL4):c.2347T>C (p.Ser783Pro)	LOC126806513, TTLL4 (S783P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228954	NM_014640.5(TTLL4):c.1033G>T (p.Ala345Ser)	TTLL4 (A345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220894	NM_014640.5(TTLL4):c.2759A>G (p.Asp920Gly)	TTLL4 (D920G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219093	NM_014640.5(TTLL4):c.1846C>T (p.Pro616Ser)	LOC126806512, TTLL4 (P616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218731	NM_014640.5(TTLL4):c.1213G>C (p.Asp405His)	TTLL4 (D405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217532	NM_014640.5(TTLL4):c.2258A>C (p.His753Pro)	LOC126806513, TTLL4 (H753P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217531	NM_014640.5(TTLL4):c.2257C>G (p.His753Asp)	LOC126806513, TTLL4 (H753D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	MIR375, NHEJ1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 775816	NM_014640.5(TTLL4):c.2550C>T (p.Ser850=)	TTLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775815	NM_014640.5(TTLL4):c.141G>T (p.Gln47His)	TTLL4 (Q47H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722355	NM_014640.5(TTLL4):c.111G>A (p.Ser37=)	TTLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716189	NM_014640.5(TTLL4):c.3504G>A (p.Thr1168=)	TTLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714147	NM_014640.5(TTLL4):c.413C>T (p.Ser138Leu)	TTLL4 (S138L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic

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