ClinVar for Gene (Select 7284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184848	NM_003321.5(TUFM):c.907C>T (p.Arg303Cys)	TUFM (R303C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184847	NM_003321.5(TUFM):c.77T>C (p.Leu26Pro)	TUFM (L26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063469	GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3063451	GRCh37/hg19 16p11.2(chr16:28824490-28932234)x3	ATP2A1, ATXN2L +3 more	Copy number gain	not specified	GPathogenic
Select item 3063422	GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1	APOBR, ATP2A1 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063415	GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3021341	NM_003321.5(TUFM):c.842C>T (p.Thr281Ile)	TUFM (T281I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990427	NM_003321.5(TUFM):c.1284A>C (p.Arg428=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987541	NM_003321.5(TUFM):c.414+18A>G	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986853	NM_003321.5(TUFM):c.706C>T (p.Leu236=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833666	NM_003321.5(TUFM):c.922+12C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823053	NM_003321.5(TUFM):c.475G>A (p.Gly159Ser)	TUFM (G159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685567	GRCh37/hg19 16p11.2(chr16:28824491-29070000)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2685565	GRCh37/hg19 16p11.2(chr16:28819029-29088624)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2685564	GRCh37/hg19 16p11.2(chr16:28747521-29084772)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 2684802	GRCh37/hg19 16p11.2(chr16:28819029-28998525)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684801	GRCh37/hg19 16p11.2(chr16:28802398-29051191)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684800	GRCh37/hg19 16p11.2(chr16:28747521-29043450)x3	ATP2A1, ATXN2L +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684799	GRCh37/hg19 16p11.2(chr16:28441539-29351827)x3	APOBR, ATP2A1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2637519	NC_000016.9:g.(?_28853731)_(28857670_?)del	TUFM	Deletion	not specified	GUncertain significance
Select item 2598613	NM_003321.5(TUFM):c.941A>G (p.Lys314Arg)	TUFM (K286R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580325	GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1	ATP2A1, ATXN2L +7 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2556475	NM_003321.5(TUFM):c.494G>C (p.Arg165Pro)	TUFM (R165P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536999	NM_003321.5(TUFM):c.436C>A (p.Pro146Thr)	TUFM (P146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532265	NM_003321.5(TUFM):c.799G>A (p.Ala267Thr)	TUFM (A267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493052	NM_003321.5(TUFM):c.368G>A (p.Arg123His)	TUFM (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489673	NM_003321.5(TUFM):c.1015C>T (p.Arg339Trp)	TUFM (R311W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461524	NM_003321.5(TUFM):c.674G>A (p.Cys225Tyr)	TUFM (C225Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2416239	NM_003321.5(TUFM):c.415-9C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415095	NM_003321.5(TUFM):c.912T>C (p.Thr304=)	TUFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413661	NM_003321.5(TUFM):c.1126C>T (p.His376Tyr)	TUFM (H348Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383258	NM_003321.5(TUFM):c.107C>T (p.Ala36Val)	TUFM (A36V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267456	NM_003321.5(TUFM):c.1099G>C (p.Gly367Arg)	TUFM (G339R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197670	NM_003321.5(TUFM):c.17C>T (p.Ala6Val)	LOC130058735, TUFM (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189960	NM_003321.5(TUFM):c.1270C>T (p.Arg424Cys)	TUFM (R424C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168907	NM_003321.5(TUFM):c.534T>C (p.His178=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151238	NM_003321.5(TUFM):c.1122G>A (p.Val374=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132651	NM_003321.5(TUFM):c.694C>A (p.Pro232Thr)	TUFM (P232T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103890	NM_003321.5(TUFM):c.181G>C (p.Val61Leu)	TUFM (V61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099382	NM_003321.5(TUFM):c.121C>T (p.Leu41Phe)	TUFM (L41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092948	NM_003321.5(TUFM):c.45C>G (p.His15Gln)	LOC130058735, TUFM (H15Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081770	NM_003321.5(TUFM):c.818-17G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075187	NM_003321.5(TUFM):c.561C>T (p.Asp187=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071216	NM_003321.5(TUFM):c.818-3del	TUFM	Deletion (intron variant)	not provided	GLikely benign
Select item 2031966	NM_003321.5(TUFM):c.354T>C (p.Tyr118=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031413	NM_003321.5(TUFM):c.378C>T (p.Ala126=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030878	NM_003321.5(TUFM):c.478C>T (p.Pro160Ser)	TUFM (P160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026293	NM_003321.5(TUFM):c.53-8C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013344	NM_003321.5(TUFM):c.304C>T (p.Pro102Ser)	TUFM (P102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013238	NM_003321.5(TUFM):c.1191_1192del (p.Lys398fs)	TUFM (K370fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1991916	NM_003321.5(TUFM):c.1358A>T (p.Lys453Ile)	TUFM (K425I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986180	NM_003321.5(TUFM):c.922+7G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973276	NM_003321.5(TUFM):c.414+6G>C	TUFM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1964107	NM_003321.5(TUFM):c.1230C>T (p.Asn410=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951990	NM_003321.5(TUFM):c.1194+20T>G	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951852	NM_003321.5(TUFM):c.513C>T (p.Ala171=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943815	NM_003321.5(TUFM):c.1333A>G (p.Met445Val)	TUFM (M445V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940157	NM_003321.5(TUFM):c.409G>A (p.Val137Ile)	TUFM (V137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938839	NM_003321.5(TUFM):c.906C>G (p.Ile302Met)	TUFM (I302M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933607	NM_003321.5(TUFM):c.520-3C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1933090	NM_003321.5(TUFM):c.520-4A>C	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932748	NM_003321.5(TUFM):c.18C>T (p.Ala6=)	LOC130058735, TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929944	NM_003321.5(TUFM):c.19G>A (p.Ala7Thr)	TUFM, LOC130058735 (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910718	NM_003321.5(TUFM):c.1074+18C>T	TUFM, MIR4721	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1905317	NM_003321.5(TUFM):c.248-9C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904918	NM_003321.5(TUFM):c.688C>T (p.Arg230Trp)	TUFM (R230W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902971	NM_003321.5(TUFM):c.811G>A (p.Val271Ile)	TUFM (V271I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809394	GRCh37/hg19 16p11.2(chr16:28371468-29342589)x3	APOBR, ATP2A1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1808864	GRCh37/hg19 16p11.2(chr16:28384464-29432245)x3	APOBR, ATP2A1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808612	GRCh37/hg19 16p11.2(chr16:28763835-29051191)x1	ATP2A1, ATXN2L +7 more	Copy number loss	not provided	GPathogenic
Select item 1808112	GRCh37/hg19 16p11.2(chr16:28490480-29379768)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807834	GRCh37/hg19 16p11.2(chr16:28486929-29351826)x1	APOBR, ATP2A1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1712090	NM_003321.5(TUFM):c.374A>G (p.Tyr125Cys)	TUFM (Y125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710520	GRCh37/hg19 16p11.2(chr16:28483659-29341550)x1	CLN3, EIF3C +15 more	Copy number loss	not provided	GPathogenic
Select item 1709965	NM_003321.5(TUFM):c.502T>A (p.Leu168Ile)	TUFM (L168I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4	GUncertain significance
Select item 1703567	GRCh37/hg19 16p11.2(chr16:28349949-29342589)	APOBR, ATP2A1 +17 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703523	GRCh37/hg19 16p11.2(chr16:28689085-29051191)	ATP2A1, ATXN2L +8 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1679691	Single allele	LOC130058744, LOC130058745 +44 more	Deletion	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1655774	NM_003321.5(TUFM):c.415-20C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645763	NM_003321.5(TUFM):c.1012C>A (p.Arg338=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635737	NM_003321.5(TUFM):c.1074+19G>A	MIR4721, TUFM	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1612127	NM_003321.5(TUFM):c.247+17C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607276	NM_003321.5(TUFM):c.393G>A (p.Pro131=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592149	NM_003321.5(TUFM):c.923-15C>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570982	NM_003321.5(TUFM):c.1194+17G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570506	NM_003321.5(TUFM):c.108C>T (p.Ala36=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564161	NM_003321.5(TUFM):c.984G>C (p.Leu328=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558098	NM_003321.5(TUFM):c.53-16G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539050	NM_003321.5(TUFM):c.399T>C (p.His133=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530770	NM_003321.5(TUFM):c.468C>G (p.Ala156=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510613	NM_003321.5(TUFM):c.1241G>A (p.Arg414Gln)	TUFM (R414Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510574	NM_003321.5(TUFM):c.1229A>G (p.Asn410Ser)	TUFM (N382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498704	NM_003321.5(TUFM):c.338C>T (p.Ala113Val)	TUFM (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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