89891[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 583833	NC_000009.11:g.(?_131386587)_(131399326_?)dup	DYNC2I2, LOC126860772 +1 more	Duplication	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 583607	NC_000009.12:g.(?_128632127)_(128640939_?)del	DYNC2I2, LOC126860772 +1 more	Deletion	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GPathogenic
Select item 365188	NC_000009.12:g.128633489G>A	DYNC2I2, SPTAN1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3057883	NM_052844.4(DYNC2I2):c.*8C>T	DYNC2I2	Single nucleotide variant (3 prime UTR variant)	DYNC2I2-related disorder	GLikely benign
Select item 1270215	NM_052844.4(DYNC2I2):c.*5T>G	DYNC2I2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2182498	NM_052844.4(DYNC2I2):c.1607C>T (p.Ala536Val)	DYNC2I2 (A536V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 771096	NM_052844.4(DYNC2I2):c.1605G>A (p.Ala535=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681162	NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val)	DYNC2I2 (A535V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681163	NM_052844.4(DYNC2I2):c.1600G>A (p.Val534Met)	DYNC2I2 (V534M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 446622	NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs)	DYNC2I2 (E523fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 3274203	NM_052844.4(DYNC2I2):c.1573G>A (p.Glu525Lys)	DYNC2I2 (E525K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681164	NM_052844.4(DYNC2I2):c.1570G>A (p.Ala524Thr)	DYNC2I2 (A524T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 723790	NM_052844.4(DYNC2I2):c.1569A>G (p.Glu523=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 936974	NM_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln)	DYNC2I2 (R522Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2807617	NM_052844.4(DYNC2I2):c.1564C>A (p.Arg522=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1945568	NM_052844.4(DYNC2I2):c.1564C>G (p.Arg522Gly)	DYNC2I2 (R522G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 970385	NM_052844.4(DYNC2I2):c.1564C>T (p.Arg522Trp)	DYNC2I2 (R522W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681165	NM_052844.4(DYNC2I2):c.1562C>T (p.Pro521Leu)	DYNC2I2 (P521L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2115642	NM_052844.4(DYNC2I2):c.1558G>A (p.Gly520Arg)	DYNC2I2 (G520R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681166	NM_052844.4(DYNC2I2):c.1551G>A (p.Thr517=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign/Likely benign
Select item 1681167	NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met)	DYNC2I2 (T517M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 97043	NM_052844.4(DYNC2I2):c.1541_1542del (p.Thr514fs)	DYNC2I2 (T514fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2082630	NM_052844.4(DYNC2I2):c.1541C>T (p.Thr514Ile)	DYNC2I2 (T514I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2055237	NM_052844.4(DYNC2I2):c.1536G>A (p.Leu512=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2806411	NM_052844.4(DYNC2I2):c.1531C>T (p.Gln511Ter)	DYNC2I2 (Q511*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 1932522	NM_052844.4(DYNC2I2):c.1520T>C (p.Val507Ala)	DYNC2I2 (V507A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 3014605	NM_052844.4(DYNC2I2):c.1515C>A (p.Gly505=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2872998	NM_052844.4(DYNC2I2):c.1509_1515del (p.Gln504_Gly505insTer)	DYNC2I2	Deletion (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 541693	NM_052844.4(DYNC2I2):c.1506T>C (p.Asp502=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681168	NM_052844.4(DYNC2I2):c.1504G>A (p.Asp502Asn)	DYNC2I2 (D502N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2062169	NM_052844.4(DYNC2I2):c.1503C>T (p.Gly501=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681169	NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 569453	NM_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val)	DYNC2I2 (A500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1953124	NM_052844.4(DYNC2I2):c.1496C>T (p.Ala499Val)	DYNC2I2 (A499V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 591854	NM_052844.4(DYNC2I2):c.1489_1490insCAGCA (p.Leu497fs)	DYNC2I2 (L497fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1681170	NM_052844.4(DYNC2I2):c.1481A>G (p.Gln494Arg)	DYNC2I2 (Q494R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 446621	NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)	DYNC2I2, SPTAN1 (Q494*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 2105904	NM_052844.4(DYNC2I2):c.1467G>A (p.Glu489=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2703951	NM_052844.4(DYNC2I2):c.1461_1464dup (p.Glu489fs)	DYNC2I2 (E489fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2815272	NM_052844.4(DYNC2I2):c.1461T>C (p.Cys487=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2918557	NM_052844.4(DYNC2I2):c.1458C>T (p.Tyr486=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2077684	NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys)	DYNC2I2 (Y486C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2046702	NM_052844.4(DYNC2I2):c.1456T>C (p.Tyr486His)	DYNC2I2 (Y486H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681171	NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile)	DYNC2I2 (V485I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 2844766	NM_052844.4(DYNC2I2):c.1449C>T (p.Ser483=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681172	NM_052844.4(DYNC2I2):c.1449C>A (p.Ser483Arg)	DYNC2I2 (S483R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2058747	NM_052844.4(DYNC2I2):c.1437C>T (p.Thr479=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681173	NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681174	NM_052844.4(DYNC2I2):c.1429A>G (p.Lys477Glu)	DYNC2I2 (K477E)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 3375030	NM_052844.4(DYNC2I2):c.1427T>A (p.Ile476Asn)	DYNC2I2 (I476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1681175	NM_052844.4(DYNC2I2):c.1425G>C (p.Leu475Phe)	DYNC2I2 (L475F)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GBenign
Select item 474847	NM_052844.4(DYNC2I2):c.1424T>C (p.Leu475Ser)	DYNC2I2 (L475S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1068136	NM_052844.4(DYNC2I2):c.1418_1419del (p.Thr473fs)	DYNC2I2 (T473fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely pathogenic
Select item 2199576	NM_052844.4(DYNC2I2):c.1417A>C (p.Thr473Pro)	DYNC2I2 (T473P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681176	NM_052844.4(DYNC2I2):c.1412A>G (p.Lys471Arg)	DYNC2I2 (K471R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 446624	NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro)	DYNC2I2 (Q466P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 3012670	NM_052844.4(DYNC2I2):c.1395C>T (p.Leu465=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 772781	NM_052844.4(DYNC2I2):c.1377C>T (p.Asp459=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 707352	NM_052844.4(DYNC2I2):c.1373-5T>G	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign/Likely benign
Select item 1681177	NM_052844.4(DYNC2I2):c.1373-6T>C	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2415706	NM_052844.4(DYNC2I2):c.1373-12CT[2]	DYNC2I2	Microsatellite (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2195895	NM_052844.4(DYNC2I2):c.1373-14G>C	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2147636	NM_052844.4(DYNC2I2):c.1373-16_1373-15del	DYNC2I2	Deletion (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681178	NM_052844.4(DYNC2I2):c.1373-19dup	DYNC2I2	Duplication (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681179	NM_052844.4(DYNC2I2):c.1373-20G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2862139	NM_052844.4(DYNC2I2):c.1372+20C>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2043356	NM_052844.4(DYNC2I2):c.1372+19G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681180	NM_052844.4(DYNC2I2):c.1372+12_1372+18del	DYNC2I2	Deletion (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2717153	NM_052844.4(DYNC2I2):c.1372+16T>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2198028	NM_052844.4(DYNC2I2):c.1372+13dup	DYNC2I2	Duplication (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681181	NM_052844.4(DYNC2I2):c.1372+14G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2168144	NM_052844.4(DYNC2I2):c.1372+13C>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2162368	NM_052844.4(DYNC2I2):c.1372+13C>T	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 474846	NM_052844.4(DYNC2I2):c.1372+10G>C	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1314640	NM_052844.4(DYNC2I2):c.1372+5del	DYNC2I2	Deletion (intron variant)	not provided +1 more	GUncertain significance
Select item 2196170	NM_052844.4(DYNC2I2):c.1372+1G>A	DYNC2I2	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 1681182	NM_052844.4(DYNC2I2):c.1363T>C (p.Ser455Pro)	DYNC2I2 (S455P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2737893	NM_052844.4(DYNC2I2):c.1362C>A (p.Ala454=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2158996	NM_052844.4(DYNC2I2):c.1362C>T (p.Ala454=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2198496	NM_052844.4(DYNC2I2):c.1361C>G (p.Ala454Gly)	DYNC2I2 (A454G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1996238	NM_052844.4(DYNC2I2):c.1360G>A (p.Ala454Thr)	DYNC2I2 (A454T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2046863	NM_052844.4(DYNC2I2):c.1357G>A (p.Ala453Thr)	DYNC2I2 (A453T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance

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