14048[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 300690	NM_016065.4(MRPS16):c.*1503A>G	MRPS16, DNAJC9-AS1	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300694	NM_016065.4(MRPS16):c.1291_1293del	DNAJC9-AS1, MRPS16	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300699	NM_016065.4(MRPS16):c.854_856del	DNAJC9-AS1, MRPS16	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300704	NM_016065.4(MRPS16):c.*633dup	MRPS16, DNAJC9-AS1	Duplication (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300712	NM_016065.4(MRPS16):c.*450del	DNAJC9-AS1, MRPS16	Deletion (3 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 1291206	NM_016065.4(MRPS16):c.*13T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2071509	NM_016065.4(MRPS16):c.404C>T (p.Thr135Ile)	DNAJC9-AS1, MRPS16 (T135I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380676	NM_016065.4(MRPS16):c.389C>T (p.Thr130Ile)	DNAJC9-AS1, MRPS16 (T130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214673	NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)	MRPS16, DNAJC9-AS1 (T130R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2560988	NM_016065.4(MRPS16):c.388A>G (p.Thr130Ala)	DNAJC9-AS1, MRPS16 (T130A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214672	NM_016065.4(MRPS16):c.380C>T (p.Ala127Val)	MRPS16, DNAJC9-AS1 (A127V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2249121	NM_016065.4(MRPS16):c.347G>T (p.Arg116Leu)	DNAJC9-AS1, MRPS16 (R116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214671	NM_016065.4(MRPS16):c.344C>T (p.Ala115Val)	DNAJC9-AS1, MRPS16 (A115V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2122989	NM_016065.4(MRPS16):c.341G>A (p.Arg114Gln)	DNAJC9-AS1, MRPS16 (R114Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316638	NM_016065.4(MRPS16):c.340C>T (p.Arg114Trp)	DNAJC9-AS1, MRPS16 (R114W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413224	NM_016065.4(MRPS16):c.332G>C (p.Arg111Pro)	DNAJC9-AS1, MRPS16 (R111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214676	NM_016065.4(MRPS16):c.332G>A (p.Arg111Gln)	DNAJC9-AS1, MRPS16 (R111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1835	NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)	DNAJC9-AS1, MRPS16 (R111*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 2076629	NM_016065.4(MRPS16):c.326_327del (p.Arg109fs)	DNAJC9-AS1, MRPS16 (R109fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 747316	NM_016065.4(MRPS16):c.312C>T (p.Ile104=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411350	NM_016065.4(MRPS16):c.304A>G (p.Met102Val)	DNAJC9-AS1, MRPS16 (M102V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 214675	NM_016065.4(MRPS16):c.300T>A (p.His100Gln)	DNAJC9-AS1, MRPS16 (H100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437121	NM_016065.4(MRPS16):c.290dup (p.Leu99fs)	DNAJC9-AS1, MRPS16 (L99fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1658940	NM_016065.4(MRPS16):c.285C>G (p.Gly95=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214677	NM_016065.3(MRPS16):c.275delG	DNAJC9-AS1, MRPS16	Deletion (intron variant)	not provided	GPathogenic
Select item 2044589	NM_016065.4(MRPS16):c.275-4T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 300717	NM_016065.4(MRPS16):c.275-5T>G	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 1316802	NM_016065.4(MRPS16):c.275-153C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682636	NM_016065.4(MRPS16):c.275-247A>G	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673190	NM_016065.4(MRPS16):c.275-297T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287333	NM_016065.4(MRPS16):c.274+220del	DNAJC9-AS1, MRPS16	Deletion (intron variant)	not provided	GBenign
Select item 1264988	NM_016065.4(MRPS16):c.274+212A>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318329	NM_016065.4(MRPS16):c.274+66G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070001	NM_016065.4(MRPS16):c.270T>G (p.Leu90=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324944	NM_016065.4(MRPS16):c.250T>C (p.Ser84Pro)	DNAJC9-AS1, MRPS16 (S84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294583	NM_016065.4(MRPS16):c.248T>A (p.Leu83His)	DNAJC9-AS1, MRPS16 (L83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307154	NM_016065.4(MRPS16):c.245A>C (p.His82Pro)	DNAJC9-AS1, MRPS16 (H82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2073710	NM_016065.4(MRPS16):c.241G>A (p.Ala81Thr)	DNAJC9-AS1, MRPS16 (A81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414090	NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)	DNAJC9-AS1, MRPS16 (G80R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2818405	NM_016065.4(MRPS16):c.221G>A (p.Arg74His)	DNAJC9-AS1, MRPS16 (R74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970745	NM_016065.4(MRPS16):c.220C>T (p.Arg74Cys)	DNAJC9-AS1, MRPS16 (R74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971809	NM_016065.4(MRPS16):c.192A>C (p.Lys64Asn)	DNAJC9-AS1, MRPS16 (K64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3208703	NM_016065.4(MRPS16):c.170T>C (p.Leu57Ser)	DNAJC9-AS1, MRPS16 (L57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2827721	NM_016065.4(MRPS16):c.166C>G (p.Pro56Ala)	DNAJC9-AS1, MRPS16 (P56A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196967	NM_016065.4(MRPS16):c.161A>G (p.Tyr54Cys)	DNAJC9-AS1, MRPS16 (Y54C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916343	NM_016065.4(MRPS16):c.159C>T (p.Ser53=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995095	NM_016065.4(MRPS16):c.149A>T (p.Gln50Leu)	DNAJC9-AS1, MRPS16 (Q50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148850	NM_016065.4(MRPS16):c.141C>T (p.Phe47=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829598	NM_016065.4(MRPS16):c.140T>C (p.Phe47Ser)	DNAJC9-AS1, MRPS16 (F47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510970	NM_016065.4(MRPS16):c.135C>T (p.Gly45=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3042030	NM_016065.4(MRPS16):c.120G>A (p.Lys40=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	MRPS16-related disorder	GLikely benign
Select item 214670	NM_016065.4(MRPS16):c.112C>A (p.His38Asn)	DNAJC9-AS1, MRPS16 (H38N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 300720	NM_016065.4(MRPS16):c.96C>T (p.Tyr32=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604458	NM_016065.4(MRPS16):c.95A>G (p.Tyr32Cys)	DNAJC9-AS1, MRPS16 (Y32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1950185	NM_016065.4(MRPS16):c.89C>T (p.Pro30Leu)	DNAJC9-AS1, MRPS16 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507557	NM_016065.4(MRPS16):c.71G>T (p.Gly24Val)	MRPS16, DNAJC9-AS1 (G24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 722490	NM_016065.4(MRPS16):c.69G>C (p.Leu23=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516281	NM_016065.4(MRPS16):c.66C>T (p.Ala22=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329417	NM_016065.4(MRPS16):c.65C>T (p.Ala22Val)	DNAJC9-AS1, MRPS16 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 300721	NM_016065.4(MRPS16):c.63T>C (p.Leu21=)	MRPS16, DNAJC9-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 300722	NM_016065.4(MRPS16):c.59G>A (p.Arg20His)	DNAJC9-AS1, MRPS16 (R20H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1392416	NM_016065.4(MRPS16):c.55A>G (p.Ile19Val)	DNAJC9-AS1, MRPS16 (I19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214669	NM_016065.4(MRPS16):c.38G>A (p.Arg13His)	DNAJC9-AS1, MRPS16 (R13H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 300723	NM_016065.4(MRPS16):c.34T>C (p.Tyr12His)	DNAJC9-AS1, MRPS16 (Y12H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1427552	NM_016065.4(MRPS16):c.31G>T (p.Ala11Ser)	DNAJC9-AS1, MRPS16 (A11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513593	NM_016065.4(MRPS16):c.21C>T (p.Leu7=)	MRPS16, DNAJC9-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1378106	NM_016065.4(MRPS16):c.16A>C (p.Thr6Pro)	MRPS16, DNAJC9-AS1 (T6P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2833665	NM_016065.4(MRPS16):c.14C>T (p.Thr5Ile)	DNAJC9-AS1, MRPS16 (T5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317884	NM_016065.4(MRPS16):c.14-3C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2703632	NM_016065.4(MRPS16):c.14-6C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 300725	NM_016065.4(MRPS16):c.14-12G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2975733	NM_016065.4(MRPS16):c.14-17C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179489	NM_016065.4(MRPS16):c.14-161C>G	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178938	NM_016065.4(MRPS16):c.13+106T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930684	NM_016065.4(MRPS16):c.13+17C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699290	NM_016065.4(MRPS16):c.13+15C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512930	NM_016065.4(MRPS16):c.13+12G>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1507460	NM_016065.4(MRPS16):c.13+5G>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1405027	NM_016065.4(MRPS16):c.2T>C (p.Met1Thr)	DNAJC9-AS1, MRPS16 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138249	NM_016065.4(MRPS16):c.-8G>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 382432	NM_016065.4(MRPS16):c.-13C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 300726	NM_016065.4(MRPS16):c.-85GT[1]	DNAJC9-AS1, MRPS16	Microsatellite (5 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300727	NM_016065.4(MRPS16):c.-95G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 300728	NM_016065.4(MRPS16):c.-103G>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 300729	NM_016065.4(MRPS16):c.-120_-118del	DNAJC9-AS1, MRPS16	Deletion (5 prime UTR variant)	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 300732	NM_016065.3(MRPS16):c.-183A>G	DNAJC9-AS1, MRPS16	Single nucleotide variant	Combined oxidative phosphorylation deficiency	GUncertain significance
Select item 1317795	NC_000010.11:g.73252708C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant	not provided	GLikely benign
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1447010	NC_000010.10:g.(?_75010610)_(75012240_?)dup	MRPS16	Duplication	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic

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