LOC126860772[gene] - 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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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	LOC130003109, LOC130003110 +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 1681195	NM_052844.4(DYNC2I2):c.1202C>T (p.Ser401Phe)	DYNC2I2, LOC126860772 (S401F)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681194	NM_052844.4(DYNC2I2):c.1198_1201dup (p.Ser401fs)	DYNC2I2, LOC126860772 (S401fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2102116	NM_052844.4(DYNC2I2):c.1201T>C (p.Ser401Pro)	DYNC2I2, LOC126860772 (S401P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681196	NM_052844.4(DYNC2I2):c.1196G>A (p.Ser399Asn)	DYNC2I2, LOC126860772 (S399N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2159297	NM_052844.4(DYNC2I2):c.1191T>A (p.Ser397=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2132318	NM_052844.4(DYNC2I2):c.1189T>C (p.Ser397Pro)	DYNC2I2, LOC126860772 (S397P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 796893	NM_052844.4(DYNC2I2):c.1188C>T (p.Tyr396=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109789	NM_052844.4(DYNC2I2):c.1186T>C (p.Tyr396His)	DYNC2I2, LOC126860772 (Y396H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2036052	NM_052844.4(DYNC2I2):c.1182C>T (p.Pro394=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2015481	NM_052844.4(DYNC2I2):c.1178G>A (p.Gly393Asp)	DYNC2I2, LOC126860772 (G393D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 97042	NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)	DYNC2I2, LOC126860772 (G393S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2081312	NM_052844.4(DYNC2I2):c.1176C>T (p.Gly392=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681197	NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser)	DYNC2I2, LOC126860772 (G392S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 2200128	NM_052844.4(DYNC2I2):c.1173C>T (p.His391=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2899243	NM_052844.4(DYNC2I2):c.1171dup (p.His391fs)	DYNC2I2, LOC126860772 (H391fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2074253	NM_052844.4(DYNC2I2):c.1171C>A (p.His391Asn)	DYNC2I2, LOC126860772 (H391N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2037720	NM_052844.4(DYNC2I2):c.1171C>T (p.His391Tyr)	DYNC2I2, LOC126860772 (H391Y)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1029041	NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp)	DYNC2I2, LOC126860772 (H391D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2418432	NM_052844.4(DYNC2I2):c.1169C>G (p.Pro390Arg)	DYNC2I2, LOC126860772 (P390R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1526181	NM_052844.4(DYNC2I2):c.1169C>T (p.Pro390Leu)	DYNC2I2, LOC126860772 (P390L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2095491	NM_052844.4(DYNC2I2):c.1165_1167del (p.Ser389del)	DYNC2I2, LOC126860772 (S389del)	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 761609	NM_052844.4(DYNC2I2):c.1167C>T (p.Ser389=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681198	NM_052844.4(DYNC2I2):c.1164C>T (p.Phe388=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2049281	NM_052844.4(DYNC2I2):c.1155G>C (p.Gln385His)	DYNC2I2, LOC126860772 (Q385H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 1681199	NM_052844.4(DYNC2I2):c.1154A>G (p.Gln385Arg)	DYNC2I2, LOC126860772 (Q385R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1683457	NM_052844.4(DYNC2I2):c.1150G>C (p.Ala384Pro)	DYNC2I2, LOC126860772 (A384P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 474845	NM_052844.4(DYNC2I2):c.1146C>T (p.Ala382=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2081548	NM_052844.4(DYNC2I2):c.1141C>T (p.Arg381Trp)	DYNC2I2, LOC126860772 (R381W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2108466	NM_052844.4(DYNC2I2):c.1135C>T (p.Pro379Ser)	DYNC2I2, LOC126860772 (P379S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681200	NM_052844.4(DYNC2I2):c.1132G>A (p.Val378Met)	DYNC2I2, LOC126860772 (V378M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 789779	NM_052844.4(DYNC2I2):c.1131C>T (p.Ser377=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1948025	NM_052844.4(DYNC2I2):c.1125C>A (p.Pro375=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2152142	NM_052844.4(DYNC2I2):c.1118G>A (p.Arg373Gln)	DYNC2I2, LOC126860772 (R373Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2057434	NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs)	DYNC2I2, LOC126860772 (R373fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 1681201	NM_052844.4(DYNC2I2):c.1118G>T (p.Arg373Leu)	DYNC2I2, LOC126860772 (R373L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 1681202	NM_052844.4(DYNC2I2):c.1117C>T (p.Arg373Trp)	DYNC2I2, LOC126860772 (R373W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 772280	NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign/Likely benign
Select item 2202646	NM_052844.4(DYNC2I2):c.1115C>T (p.Thr372Met)	DYNC2I2, LOC126860772 (T372M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681203	NM_052844.4(DYNC2I2):c.1114A>T (p.Thr372Ser)	DYNC2I2, LOC126860772 (T372S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2142450	NM_052844.4(DYNC2I2):c.1112T>G (p.Leu371Arg)	DYNC2I2, LOC126860772 (L371R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2135097	NM_052844.4(DYNC2I2):c.1108G>T (p.Ala370Ser)	DYNC2I2, LOC126860772 (A370S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 838321	NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs)	DYNC2I2, LOC126860772 (E368fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 1681204	NM_052844.4(DYNC2I2):c.1099G>A (p.Gly367Arg)	DYNC2I2, LOC126860772 (G367R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2703022	NM_052844.4(DYNC2I2):c.1098T>C (p.Ala366=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2123888	NM_052844.4(DYNC2I2):c.1097C>G (p.Ala366Gly)	DYNC2I2, LOC126860772 (A366G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2158517	NM_052844.4(DYNC2I2):c.1089C>T (p.Ser363=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2145295	NM_052844.4(DYNC2I2):c.1077G>A (p.Pro359=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2153405	NM_052844.4(DYNC2I2):c.1076C>T (p.Pro359Leu)	DYNC2I2, LOC126860772 (P359L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681205	NM_052844.4(DYNC2I2):c.1072T>G (p.Phe358Val)	DYNC2I2, LOC126860772 (F358V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681206	NM_052844.4(DYNC2I2):c.1069G>A (p.Gly357Ser)	DYNC2I2, LOC126860772 (G357S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 474844	NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)	DYNC2I2, LOC126860772 (G356S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +2 more	GBenign/Likely benign
Select item 1989554	NM_052844.4(DYNC2I2):c.1063G>C (p.Glu355Gln)	DYNC2I2, LOC126860772 (E355Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2415796	NM_052844.4(DYNC2I2):c.1062G>A (p.Thr354=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 97038	NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met)	DYNC2I2, LOC126860772 (T354M)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder	GLikely pathogenic
Select item 446623	NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala)	DYNC2I2, LOC126860772 (T354A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 756928	NM_052844.4(DYNC2I2):c.1045C>T (p.Leu349=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681207	NM_052844.4(DYNC2I2):c.1038C>T (p.Asp346=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 754203	NM_052844.4(DYNC2I2):c.1026C>T (p.Phe342=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160994	NM_052844.4(DYNC2I2):c.1024T>C (p.Phe342Leu)	DYNC2I2, LOC126860772 (F342L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 97037	NM_052844.4(DYNC2I2):c.1022C>T (p.Ala341Val)	DYNC2I2, LOC126860772 (A341V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 1681208	NM_052844.4(DYNC2I2):c.1014G>A (p.Thr338=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 842076	NM_052844.4(DYNC2I2):c.1013C>T (p.Thr338Met)	DYNC2I2, LOC126860772 (T338M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 474843	NM_052844.4(DYNC2I2):c.1008C>T (p.Gly336=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GBenign
Select item 1681209	NM_052844.4(DYNC2I2):c.1006G>A (p.Gly336Ser)	LOC126860772, DYNC2I2 (G336S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2818909	NM_052844.4(DYNC2I2):c.1003G>T (p.Val335Leu)	DYNC2I2, LOC126860772 (V335L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1678057	NM_052844.4(DYNC2I2):c.1000G>A (p.Glu334Lys)	LOC126860772, DYNC2I2 (E334K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681210	NM_052844.4(DYNC2I2):c.999C>T (p.Thr333=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681211	NM_052844.4(DYNC2I2):c.991G>A (p.Gly331Arg)	DYNC2I2, LOC126860772 (G331R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681212	NM_052844.4(DYNC2I2):c.990C>T (p.Arg330=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681213	NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys)	DYNC2I2, LOC126860772 (R330C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 97041	NM_052844.4(DYNC2I2):c.982-2A>C	DYNC2I2, LOC126860772	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2729297	NM_052844.4(DYNC2I2):c.982-9T>C	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2123459	NM_052844.4(DYNC2I2):c.982-12A>G	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681214	NM_052844.4(DYNC2I2):c.982-20C>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1179325	NM_052844.4(DYNC2I2):c.981+59G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681215	NM_052844.4(DYNC2I2):c.981+15G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1989088	NM_052844.4(DYNC2I2):c.981+14C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1904635	NM_052844.4(DYNC2I2):c.981+12C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2003231	NM_052844.4(DYNC2I2):c.981+4C>G	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681216	NM_052844.4(DYNC2I2):c.981+4C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance

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