TULP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 153297	GRCh38/hg38 6q25.3(chr6:158174555-158762476)x3	DYNLT1, GTF2H5 +30 more	Copy number gain	See cases	GLikely benign
Select item 3184924	NM_020245.5(TULP4):c.73C>T (p.Arg25Cys)	LOC129997566, TULP4 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184878	NM_020245.5(TULP4):c.100C>G (p.Pro34Ala)	LOC129997566, TULP4 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597513	NM_020245.5(TULP4):c.209C>T (p.Thr70Ile)	TULP4 (T70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184894	NM_020245.5(TULP4):c.235C>T (p.Arg79Trp)	TULP4 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337596	NM_020245.5(TULP4):c.245A>G (p.Asn82Ser)	TULP4 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527740	NM_020245.5(TULP4):c.250G>A (p.Glu84Lys)	TULP4 (E84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304266	NM_020245.5(TULP4):c.370C>T (p.Arg124Cys)	TULP4 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398882	NM_020245.5(TULP4):c.395C>T (p.Thr132Met)	TULP4 (T132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327566	NM_020245.5(TULP4):c.482C>T (p.Ser161Leu)	TULP4 (S161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657085	NM_020245.5(TULP4):c.513G>A (p.Thr171=)	TULP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184921	NM_020245.5(TULP4):c.610G>A (p.Val204Ile)	TULP4 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184922	NM_020245.5(TULP4):c.631G>A (p.Gly211Ser)	TULP4 (G211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250978	NM_020245.5(TULP4):c.631G>C (p.Gly211Arg)	TULP4 (G211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184923	NM_020245.5(TULP4):c.656A>T (p.Tyr219Phe)	TULP4 (Y219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543304	NM_020245.5(TULP4):c.742C>T (p.Pro248Ser)	TULP4 (P248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350525	NM_020245.5(TULP4):c.815A>G (p.Asn272Ser)	TULP4 (N272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657086	NM_020245.5(TULP4):c.852G>A (p.Gly284=)	TULP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184926	NM_020245.5(TULP4):c.853C>A (p.Leu285Met)	TULP4 (L285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184927	NM_020245.5(TULP4):c.916C>T (p.Arg306Trp)	TULP4 (R306W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184928	NM_020245.5(TULP4):c.943A>G (p.Asn315Asp)	TULP4 (N315D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184929	NM_020245.5(TULP4):c.944A>G (p.Asn315Ser)	TULP4 (N315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330287	NM_020245.5(TULP4):c.1030C>T (p.Pro344Ser)	TULP4 (P344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330289	NM_020245.5(TULP4):c.1058G>A (p.Arg353Gln)	TULP4 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657087	NM_020245.5(TULP4):c.1072T>C (p.Leu358=)	TULP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404962	NM_020245.5(TULP4):c.1118G>A (p.Arg373Gln)	TULP4 (R373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184879	NM_020245.5(TULP4):c.1156G>A (p.Ala386Thr)	TULP4 (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184880	NM_020245.5(TULP4):c.1169G>T (p.Arg390Leu)	TULP4 (R390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342967	NM_020245.5(TULP4):c.1169G>A (p.Arg390His)	TULP4 (R390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226132	NM_020245.5(TULP4):c.1176C>G (p.Asp392Glu)	TULP4 (D392E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263231	NM_020245.5(TULP4):c.1183G>A (p.Val395Ile)	TULP4 (V395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398002	NM_020245.5(TULP4):c.1268C>T (p.Pro423Leu)	TULP4 (P423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184881	NM_020245.5(TULP4):c.1337G>A (p.Arg446His)	TULP4 (R446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538626	NM_020245.5(TULP4):c.1367C>T (p.Pro456Leu)	TULP4 (P456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607670	NM_020245.5(TULP4):c.1376C>G (p.Thr459Arg)	TULP4 (T459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465547	NM_020245.5(TULP4):c.1424G>A (p.Arg475Gln)	TULP4 (R475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524303	NM_020245.5(TULP4):c.1453G>A (p.Val485Ile)	TULP4 (V485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219975	NM_020245.5(TULP4):c.1478G>A (p.Ser493Asn)	TULP4 (S493N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2300539	NM_020245.5(TULP4):c.1520T>C (p.Val507Ala)	TULP4 (V507A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295872	NM_020245.5(TULP4):c.1552G>T (p.Asp518Tyr)	TULP4 (D518Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184882	NM_020245.5(TULP4):c.1582A>G (p.Lys528Glu)	TULP4 (K528E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184883	NM_020245.5(TULP4):c.1591C>T (p.Pro531Ser)	TULP4 (P531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657088	NM_020245.5(TULP4):c.1610G>A (p.Ser537Asn)	TULP4 (S537N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2495298	NM_020245.5(TULP4):c.1622A>G (p.Lys541Arg)	TULP4 (K541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025673	NM_020245.5(TULP4):c.1631+3A>C	TULP4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3330286	NM_020245.5(TULP4):c.1649G>A (p.Arg550His)	TULP4 (R550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306473	NM_020245.5(TULP4):c.1700G>A (p.Arg567Gln)	TULP4 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184884	NM_020245.5(TULP4):c.1711C>T (p.Arg571Cys)	TULP4 (R571C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258261	NM_020245.5(TULP4):c.1726G>C (p.Gly576Arg)	TULP4 (G576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184885	NM_020245.5(TULP4):c.1744C>T (p.Arg582Trp)	TULP4 (R582W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184886	NM_020245.5(TULP4):c.1790C>G (p.Ala597Gly)	TULP4 (A597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467529	NM_020245.5(TULP4):c.1937G>A (p.Arg646Gln)	TULP4 (R646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553064	NM_020245.5(TULP4):c.1955A>G (p.Tyr652Cys)	TULP4 (Y652C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491256	NM_020245.5(TULP4):c.2015T>C (p.Val672Ala)	TULP4 (V672A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368634	NM_020245.5(TULP4):c.2090C>T (p.Ser697Leu)	TULP4 (S697L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620309	NM_020245.5(TULP4):c.2103G>T (p.Met701Ile)	TULP4 (M701I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184887	NM_020245.5(TULP4):c.2132A>G (p.Gln711Arg)	TULP4 (Q711R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184889	NM_020245.5(TULP4):c.2183C>T (p.Thr728Met)	TULP4 (T728M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398586	NM_020245.5(TULP4):c.2191G>A (p.Val731Ile)	TULP4 (V731I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184890	NM_020245.5(TULP4):c.2231A>T (p.Tyr744Phe)	TULP4 (Y744F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321465	NM_020245.5(TULP4):c.2244C>G (p.Asn748Lys)	TULP4 (N748K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184891	NM_020245.5(TULP4):c.2246G>A (p.Arg749Gln)	TULP4 (R749Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184892	NM_020245.5(TULP4):c.2281G>A (p.Val761Met)	TULP4 (V761M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184893	NM_020245.5(TULP4):c.2294G>A (p.Arg765His)	TULP4 (R765H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769700	NM_020245.5(TULP4):c.2334G>A (p.Pro778=)	TULP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2236399	NM_020245.5(TULP4):c.2356T>C (p.Ser786Pro)	TULP4 (S786P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306924	NM_020245.5(TULP4):c.2360C>T (p.Thr787Met)	TULP4 (T787M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612773	NM_020245.5(TULP4):c.2362G>A (p.Val788Met)	TULP4 (V788M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184895	NM_020245.5(TULP4):c.2416C>T (p.Arg806Trp)	TULP4 (R806W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657089	NM_020245.5(TULP4):c.2425C>A (p.Pro809Thr)	TULP4 (P809T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2304485	NM_020245.5(TULP4):c.2507C>T (p.Pro836Leu)	TULP4 (P836L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330295	NM_020245.5(TULP4):c.2546C>A (p.Ala849Glu)	TULP4 (A849E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184896	NM_020245.5(TULP4):c.2603G>A (p.Gly868Asp)	TULP4 (G868D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379416	NM_020245.5(TULP4):c.2624C>T (p.Thr875Met)	TULP4 (T875M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317860	NM_020245.5(TULP4):c.2626T>C (p.Ser876Pro)	TULP4 (S876P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484541	NM_020245.5(TULP4):c.2704C>T (p.Arg902Trp)	TULP4 (R902W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410579	NM_020245.5(TULP4):c.2705G>A (p.Arg902Gln)	TULP4 (R902Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184897	NM_020245.5(TULP4):c.2756C>T (p.Pro919Leu)	TULP4 (P919L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301358	NM_020245.5(TULP4):c.2763C>G (p.Ser921Arg)	TULP4 (S921R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214706	NM_020245.5(TULP4):c.2783C>T (p.Thr928Met)	TULP4 (T928M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352271	NM_020245.5(TULP4):c.2833C>T (p.Arg945Cys)	TULP4 (R945C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184898	NM_020245.5(TULP4):c.2849G>C (p.Arg950Pro)	TULP4 (R950P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330293	NM_020245.5(TULP4):c.2851T>G (p.Tyr951Asp)	TULP4 (Y951D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259032	NM_020245.5(TULP4):c.2869G>C (p.Asp957His)	TULP4 (D957H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469359	NM_020245.5(TULP4):c.2876C>T (p.Pro959Leu)	TULP4 (P959L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184899	NM_020245.5(TULP4):c.2879C>T (p.Pro960Leu)	TULP4 (P960L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258717	NM_020245.5(TULP4):c.2887G>C (p.Glu963Gln)	TULP4 (E963Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521126	NM_020245.5(TULP4):c.2906C>T (p.Ala969Val)	TULP4 (A969V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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