55037[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154917	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GLikely benign
Select item 150348	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58876	GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146038	GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1273760	NC_000002.12:g.86106252C>T	POLR1A, PTCD3 (A2V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2232004	NM_017952.6(PTCD3):c.7G>A (p.Val3Ile)	PTCD3 (V3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230427	NM_017952.6(PTCD3):c.17C>T (p.Ala6Val)	PTCD3 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040310	NM_017952.6(PTCD3):c.31G>T (p.Gly11Cys)	PTCD3 (G11C)	Single nucleotide variant (missense variant)	PTCD3-related disorder	GLikely benign
Select item 2205822	NM_017952.6(PTCD3):c.34C>T (p.Leu12Phe)	PTCD3 (L12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333705	NM_017952.6(PTCD3):c.38G>C (p.Arg13Pro)	PTCD3 (R13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220596	NM_017952.6(PTCD3):c.40A>C (p.Ser14Arg)	LOC129934244, PTCD3 (S14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220599	NM_017952.6(PTCD3):c.59T>C (p.Leu20Pro)	LOC129934244, PTCD3 (L20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237966	NM_017952.6(PTCD3):c.71G>A (p.Arg24Gln)	LOC129934244, PTCD3 (R24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464949	NM_017952.6(PTCD3):c.86A>T (p.Glu29Val)	LOC129934244, PTCD3 (E29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441963	NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)	PTCD3 (W65S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 51	GUncertain significance
Select item 3341544	NM_017952.6(PTCD3):c.208G>A (p.Val70Ile)	PTCD3 (V70I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2284634	NM_017952.6(PTCD3):c.232G>C (p.Val78Leu)	PTCD3 (V78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368162	NM_017952.6(PTCD3):c.236A>G (p.Asn79Ser)	PTCD3 (N79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311097	NM_017952.6(PTCD3):c.289C>T (p.Pro97Ser)	PTCD3 (P97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454284	NM_017952.6(PTCD3):c.311G>A (p.Arg104His)	PTCD3 (R104H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1879479	NM_017952.6(PTCD3):c.413C>T (p.Pro138Leu)	PTCD3 (P138L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982042	NM_017952.6(PTCD3):c.415-2A>G	PTCD3	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 51	GPathogenic
Select item 3311100	NM_017952.6(PTCD3):c.421A>T (p.Met141Leu)	PTCD3 (M141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220597	NM_017952.6(PTCD3):c.436G>A (p.Glu146Lys)	PTCD3 (E146K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582980	NM_017952.6(PTCD3):c.446T>G (p.Ile149Ser)	PTCD3 (I149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3311099	NM_017952.6(PTCD3):c.560C>T (p.Thr187Ile)	PTCD3 (T187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220598	NM_017952.6(PTCD3):c.590A>G (p.Tyr197Cys)	PTCD3 (Y197C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311096	NM_017952.6(PTCD3):c.616G>T (p.Asp206Tyr)	PTCD3 (D206Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035812	NM_017952.6(PTCD3):c.654+4A>G	PTCD3	Single nucleotide variant (intron variant)	PTCD3-related disorder	GLikely benign
Select item 1691029	NM_017952.6(PTCD3):c.710del (p.Thr237fs)	PTCD3 (T237fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 3043848	NM_017952.6(PTCD3):c.716+4T>G	PTCD3	Single nucleotide variant (intron variant)	PTCD3-related disorder	GLikely benign
Select item 1683360	NM_017952.6(PTCD3):c.719C>G (p.Ala240Gly)	PTCD3 (A240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224129	NM_017952.6(PTCD3):c.743T>A (p.Phe248Tyr)	PTCD3 (F248Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507646	NM_017952.6(PTCD3):c.769C>G (p.His257Asp)	PTCD3 (H257D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480545	NM_017952.6(PTCD3):c.769C>T (p.His257Tyr)	PTCD3 (H257Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683359	NM_017952.6(PTCD3):c.805-3C>T	PTCD3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1694960	NM_017952.6(PTCD3):c.873A>G (p.Val291=)	PTCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2671854	NM_017952.6(PTCD3):c.902C>T (p.Thr301Ile)	PTCD3 (T301I)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 51	GPathogenic
Select item 3220600	NM_017952.6(PTCD3):c.940A>T (p.Ser314Cys)	PTCD3 (S314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220602	NM_017952.6(PTCD3):c.955C>G (p.Leu319Val)	PTCD3 (L319V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337720	NM_017952.6(PTCD3):c.1010C>T (p.Thr337Ile)	PTCD3 (T337I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220584	NM_017952.6(PTCD3):c.1031G>A (p.Arg344Lys)	PTCD3 (R344K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515725	NM_017952.6(PTCD3):c.1072C>T (p.Arg358Cys)	PTCD3 (R358C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220585	NM_017952.6(PTCD3):c.1073G>A (p.Arg358His)	PTCD3 (R358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220586	NM_017952.6(PTCD3):c.1129C>T (p.Arg377Cys)	PTCD3 (R377C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629227	NM_017952.6(PTCD3):c.1148-2A>G	PTCD3	Single nucleotide variant (splice acceptor variant)	PTCD3-related disorder	GLikely pathogenic
Select item 3348111	NM_017952.6(PTCD3):c.1166C>G (p.Ser389Ter)	PTCD3 (S389*)	Single nucleotide variant (nonsense)	PTCD3-related disorder	GLikely pathogenic
Select item 2295602	NM_017952.6(PTCD3):c.1183G>A (p.Asp395Asn)	PTCD3 (D395N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298988	NM_017952.6(PTCD3):c.1184A>T (p.Asp395Val)	PTCD3 (D395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246308	NM_017952.6(PTCD3):c.1205G>A (p.Gly402Glu)	PTCD3 (G402E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220587	NM_017952.6(PTCD3):c.1232A>G (p.Asp411Gly)	PTCD3 (D411G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373714	NM_017952.6(PTCD3):c.1251G>C (p.Gln417His)	PTCD3 (Q417H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406003	NM_017952.6(PTCD3):c.1324G>A (p.Gly442Arg)	PTCD3 (G442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244122	NM_017952.6(PTCD3):c.1331A>C (p.Asn444Thr)	PTCD3 (N444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239252	NM_017952.6(PTCD3):c.1387G>A (p.Asp463Asn)	PTCD3 (D463N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672822	NM_017952.6(PTCD3):c.1398T>C (p.Cys466=)	PTCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220588	NM_017952.6(PTCD3):c.1412T>C (p.Ile471Thr)	PTCD3 (I471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235825	NM_017952.6(PTCD3):c.1431G>A (p.Trp477Ter)	PTCD3 (W477*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 51	GLikely pathogenic
Select item 2671852	NM_017952.6(PTCD3):c.1453-1G>C	PTCD3	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 51	GPathogenic
Select item 3311101	NM_017952.6(PTCD3):c.1462C>A (p.Pro488Thr)	PTCD3 (P488T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249681	NM_017952.6(PTCD3):c.1511A>G (p.Asn504Ser)	PTCD3 (N504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220589	NM_017952.6(PTCD3):c.1514G>A (p.Arg505Gln)	PTCD3 (R505Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711867	NM_017952.6(PTCD3):c.1551A>C (p.Lys517Asn)	PTCD3 (K517N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 51	GUncertain significance
Select item 2317814	NM_017952.6(PTCD3):c.1570C>T (p.Arg524Cys)	PTCD3 (R524C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442054	NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)	PTCD3 (R524L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 51	GUncertain significance
Select item 2529285	NM_017952.6(PTCD3):c.1603A>G (p.Met535Val)	PTCD3 (M535V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220590	NM_017952.6(PTCD3):c.1661A>C (p.Asp554Ala)	PTCD3 (D554A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220591	NM_017952.6(PTCD3):c.1702G>C (p.Ala568Pro)	PTCD3 (A568P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982043	NM_017952.6(PTCD3):c.1746_1747dup (p.Phe583fs)	PTCD3 (F583fs)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation deficiency 51	GPathogenic
Select item 2442037	NM_017952.6(PTCD3):c.1782A>G (p.Lys594=)	PTCD3	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 51	GUncertain significance
Select item 2651098	NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)	PTCD3 (P640A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2332956	NM_017952.6(PTCD3):c.1946T>C (p.Val649Ala)	PTCD3 (V649A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065533	NM_017952.6(PTCD3):c.1979+1G>A	PTCD3	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation deficiency 51	GLikely pathogenic
Select item 3220592	NM_017952.6(PTCD3):c.1980G>C (p.Lys660Asn)	PTCD3 (K660N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533573	NM_017952.6(PTCD3):c.2014G>A (p.Asp672Asn)	PTCD3 (D672N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347842	NM_017952.6(PTCD3):c.2044G>A (p.Asp682Asn)	PTCD3 (D682N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3220595	NM_017952.6(PTCD3):c.2056A>C (p.Ser686Arg)	PTCD3 (S686R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 1879530	GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	REEP1, IMMT +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1807593	GRCh37/hg19 2p11.2(chr2:86276346-86373271)x1	IMMT, POLR1A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1411951	NC_000002.11:g.(?_86292377)_(86509385_?)dup	IMMT, MRPL35 +3 more	Duplication	not provided	GUncertain significance
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	IMMT, PTCD3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814280	GRCh37/hg19 2p11.2(chr2:86286478-86516984)x3	MRPL35, REEP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685965	GRCh37/hg19 2p11.2(chr2:85948835-86438539)x3	ST3GAL5, ATOH8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443280	GRCh37/hg19 2p11.2(chr2:86285942-86519023)x4	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443069	GRCh37/hg19 2p11.2(chr2:86286440-86505779)x3	IMMT, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic

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