7169[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 2382287	NM_213674.1(TPM2):c.829A>G (p.Thr277Ala)	TPM2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548556	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	TPM2 (Q276E)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GUncertain significance
Select item 930422	NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)	TPM2 (T259S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 1299603	NM_213674.1(TPM2):c.773-2A>C	TPM2	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 23	GLikely pathogenic
Select item 1245838	NM_213674.1(TPM2):c.773-95C>G	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269529	NM_213674.1(TPM2):c.773-136A>T	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193556	NM_213674.1(TPM2):c.773-137A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205261	NM_213674.1(TPM2):c.773-187C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659178	NM_213674.1(TPM2):c.773-710G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879734	NM_213674.1(TPM2):c.773-719G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914860	NM_003289.4(TPM2):c.*199C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 914861	NM_003289.4(TPM2):c.*194C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 366765	NM_003289.4(TPM2):c.*99A>G	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 366766	NM_003289.4(TPM2):c.*25A>C	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GConflicting classifications of pathogenicity
Select item 912915	NM_003289.4(TPM2):c.*22C>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 94122	NM_003289.4(TPM2):c.*8G>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +2 more	GBenign
Select item 94121	NM_003289.4(TPM2):c.*7C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +2 more	GBenign
Select item 703371	NM_003289.4(TPM2):c.846C>A (p.Thr282=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2634361	NM_003289.4(TPM2):c.836dup (p.Asn279fs)	TPM2 (N279fs)	Duplication (frameshift variant +1 more)	TPM2-related disorder	GLikely pathogenic
Select item 2177874	NM_003289.4(TPM2):c.832C>T (p.Leu278Phe)	TPM2 (L278F)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 857847	NM_003289.4(TPM2):c.830C>T (p.Ala277Val)	TPM2 (A277V)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2161599	NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)	TPM2 (A277T)	Single nucleotide variant (intron variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2011179	NM_003289.4(TPM2):c.816G>A (p.Glu272=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 366767	NM_003289.4(TPM2):c.813C>T (p.Ser271=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 23 +1 more	GBenign/Likely benign
Select item 2585480	NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)	TPM2 (A262S)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 23	GUncertain significance
Select item 977300	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	TPM2 (Y261C)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A +3 more	GPathogenic/Likely pathogenic
Select item 1995192	NM_003289.4(TPM2):c.781T>C (p.Tyr261His)	TPM2 (Y261H)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 452088	NM_003289.4(TPM2):c.773A>T (p.Asp258Val)	TPM2 (D258V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2573502	NM_003289.4(TPM2):c.773-3_773-2insCA	TPM2	Insertion (intron variant)	not specified	GUncertain significance
Select item 366768	NM_003289.4(TPM2):c.773-5_773-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A +5 more	GConflicting classifications of pathogenicity
Select item 94125	NM_003289.4(TPM2):c.773-4_773-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A +3 more	GBenign/Likely benign
Select item 94124	NM_003289.4(TPM2):c.773-3dup	TPM2	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 366769	NM_003289.4(TPM2):c.773-4_773-3insA	TPM2	Insertion (intron variant)	Arthrogryposis multiplex congenita +3 more	GBenign/Likely benign
Select item 167742	NM_003289.4(TPM2):c.773-3del	TPM2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140496	NM_003289.4(TPM2):c.773-3C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 2784486	NM_003289.4(TPM2):c.773-5_773-4insT	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1028593	NM_003289.4(TPM2):c.773-5C>G	TPM2	Single nucleotide variant (intron variant)	Congenital myopathy 23	GUncertain significance
Select item 2191724	NM_003289.4(TPM2):c.773-7_773-6insCG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 3030488	NM_003289.4(TPM2):c.773-9_773-8insCG	TPM2	Insertion (intron variant)	TPM2-related disorder	GLikely benign
Select item 1424239	NM_003289.4(TPM2):c.773-9_773-8insA	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1302243	NM_003289.4(TPM2):c.773-9_773-8insCA	TPM2	Insertion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713714	NM_003289.4(TPM2):c.773-9_773-8insG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2162990	NM_003289.4(TPM2):c.773-9C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1607199	NM_003289.4(TPM2):c.773-10_773-9insG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1494530	NM_003289.4(TPM2):c.773-10_773-9insCG	TPM2	Insertion (intron variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 1944146	NM_003289.4(TPM2):c.773-11dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2867091	NM_003289.4(TPM2):c.773-15C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1637643	NM_003289.4(TPM2):c.773-19C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1200675	NM_003289.4(TPM2):c.773-140C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670798	NM_003289.4(TPM2):c.773-235G>C	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185854	NM_003289.4(TPM2):c.772+278T>C	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810373	NM_003289.4(TPM2):c.765C>T (p.Asp255=)	TPM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 913283	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	TPM2 (D254N)	Single nucleotide variant (missense variant)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 391927	NM_003289.4(TPM2):c.759C>T (p.Ile253=)	TPM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1006848	NM_003289.4(TPM2):c.757A>G (p.Ile253Val)	TPM2 (I253V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2437202	NM_003289.4(TPM2):c.755C>T (p.Thr252Ile)	TPM2 (T252I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 528394	NM_003289.4(TPM2):c.747G>A (p.Leu249=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2437203	NM_003289.4(TPM2):c.743A>T (p.Lys248Met)	TPM2 (K248M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 2173480	NM_003289.4(TPM2):c.735T>A (p.Ser245=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 458727	NM_003289.4(TPM2):c.729G>A (p.Glu243=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 2167514	NM_003289.4(TPM2):c.727G>A (p.Glu243Lys)	TPM2 (E243K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 289926	NM_003289.4(TPM2):c.726C>T (p.Ala242=)	TPM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3181545	NM_003289.4(TPM2):c.725C>A (p.Ala242Asp)	TPM2 (A242D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2005137	NM_003289.4(TPM2):c.719A>G (p.Glu240Gly)	TPM2 (E240G)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 444769	NM_003289.4(TPM2):c.713G>T (p.Arg238Leu)	TPM2 (R238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632041	NM_003289.4(TPM2):c.712C>T (p.Arg238Ter)	TPM2 (R238*)	Single nucleotide variant (nonsense)	TPM2-related disorder	GUncertain significance
Select item 458726	NM_003289.4(TPM2):c.703-3dup	TPM2	Duplication (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1902043	NM_003289.4(TPM2):c.703-5C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 1150577	NM_003289.4(TPM2):c.703-9T>C	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 682810	NM_003289.4(TPM2):c.702+60C>T	TPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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