ClinVar for MedGen (Select 816530) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3011209	NM_052844.4(DYNC2I2):c.782C>T (p.Thr261Met)	DYNC2I2, LOC126860772 (T261M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 3006779	NM_052844.4(DYNC2I2):c.312C>T (p.Asp104=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2983910	NM_052844.4(DYNC2I2):c.150G>T (p.Ser50=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2977968	NM_052844.4(DYNC2I2):c.1311T>C (p.Tyr437=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2972777	NM_052844.4(DYNC2I2):c.546-12G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2966429	NM_052844.4(DYNC2I2):c.186+7G>C	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2965110	NM_052844.4(DYNC2I2):c.45C>T (p.Ser15=)	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 2917234	NM_052844.4(DYNC2I2):c.704-26_704-14del	DYNC2I2, LOC126860772	Deletion (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2913428	NM_052844.4(DYNC2I2):c.795C>T (p.His265=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2904975	NM_052844.4(DYNC2I2):c.324C>G (p.Leu108=)	DYNC2I2	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 2891355	NM_052844.4(DYNC2I2):c.783G>A (p.Thr261=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2885703	NM_052844.4(DYNC2I2):c.256del (p.Gln86fs)	DYNC2I2 (Q86fs)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
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 2865959	NM_052844.4(DYNC2I2):c.871_873del (p.Thr291del)	DYNC2I2, LOC126860772 (T291del)	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2865297	NM_052844.4(DYNC2I2):c.888A>C (p.Leu296=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous 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 2856454	NM_052844.4(DYNC2I2):c.906G>A (p.Gly302=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2847483	NM_052844.4(DYNC2I2):c.813+12G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2847176	NM_052844.4(DYNC2I2):c.273C>T (p.Ala91=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
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 2841611	NM_052844.4(DYNC2I2):c.186+15C>T	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2819127	NM_052844.4(DYNC2I2):c.927A>G (p.Thr309=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
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 2815325	NM_052844.4(DYNC2I2):c.51_64dup (p.Ala22fs)	DYNC2I2 (A22fs)	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 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 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 2802937	NM_052844.4(DYNC2I2):c.855G>A (p.Gln285=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2792081	NM_052844.4(DYNC2I2):c.657T>C (p.Ala219=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2787420	NM_052844.4(DYNC2I2):c.703+17G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2776016	NM_052844.4(DYNC2I2):c.267G>A (p.Thr89=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2754494	NM_052844.4(DYNC2I2):c.27A>T (p.Pro9=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2752574	NM_052844.4(DYNC2I2):c.814-10G>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2747301	NM_052844.4(DYNC2I2):c.555T>C (p.His185=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2739092	NM_052844.4(DYNC2I2):c.546-1_547del	DYNC2I2	Deletion (splice acceptor variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely pathogenic
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 2730135	NM_052844.4(DYNC2I2):c.780G>A (p.Leu260=)	LOC126860772, DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
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 2727562	NM_052844.4(DYNC2I2):c.813+19G>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2726236	NM_052844.4(DYNC2I2):c.1242C>T (p.Asp414=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2718602	NM_052844.4(DYNC2I2):c.1315_1318dup (p.Ala440fs)	DYNC2I2 (A440fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
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 2716795	NM_052844.4(DYNC2I2):c.813+11G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron 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 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 2620311	NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp)	DYNC2I2 (A73D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 2438570	NM_052844.4(DYNC2I2):c.805G>C (p.Val269Leu)	DYNC2I2, LOC126860772 (V269L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2427141	NC_000009.11:g.(?_131379899)_(131403238_?)dup	DYNC2I2, SPTAN1	Duplication	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2421417	NM_052844.4(DYNC2I2):c.697G>A (p.Val233Ile)	DYNC2I2 (V233I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2421294	NM_052844.4(DYNC2I2):c.952C>G (p.Gln318Glu)	DYNC2I2, LOC126860772 (Q318E)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2419575	NM_052844.4(DYNC2I2):c.671C>T (p.Ala224Val)	DYNC2I2 (A224V)	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 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 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 2414993	NM_052844.4(DYNC2I2):c.554A>T (p.His185Leu)	DYNC2I2 (H185L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2414712	NM_052844.4(DYNC2I2):c.582C>T (p.Phe194=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2413328	NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)	DYNC2I2 (A85T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
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 2200169	NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)	DYNC2I2 (T228M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	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 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 2199467	NM_052844.4(DYNC2I2):c.360C>T (p.Ile120=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2198627	NM_052844.4(DYNC2I2):c.1313dup (p.Phe439fs)	DYNC2I2 (F439fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2198601	NM_052844.4(DYNC2I2):c.38C>G (p.Ala13Gly)	DYNC2I2 (A13G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
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 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 2197381	NM_052844.4(DYNC2I2):c.1214+5G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2197122	NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val)	DYNC2I2 (L433V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2196544	NM_052844.4(DYNC2I2):c.937G>A (p.Ala313Thr)	DYNC2I2, LOC126860772 (A313T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	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 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 2195560	NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu)	DYNC2I2 (P32L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2195351	NM_052844.4(DYNC2I2):c.252C>T (p.Asp84=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2195341	NM_052844.4(DYNC2I2):c.570G>A (p.Thr190=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2195141	NM_052844.4(DYNC2I2):c.636C>T (p.Ala212=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2193775	NM_052844.4(DYNC2I2):c.743G>A (p.Ser248Asn)	DYNC2I2, LOC126860772 (S248N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2193761	NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)	DYNC2I2 (E61G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 2193711	NM_052844.4(DYNC2I2):c.703+13C>T	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2187731	NM_052844.4(DYNC2I2):c.295C>G (p.Pro99Ala)	DYNC2I2 (P99A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2187704	NM_052844.4(DYNC2I2):c.834T>A (p.Pro278=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2185437	NM_052844.4(DYNC2I2):c.474A>G (p.Gln158=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2184285	NM_052844.4(DYNC2I2):c.929A>G (p.Glu310Gly)	DYNC2I2, LOC126860772 (E310G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
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 2179724	NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 2172440	NM_052844.4(DYNC2I2):c.465G>A (p.Pro155=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2171341	NM_052844.4(DYNC2I2):c.21G>C (p.Pro7=)	DYNC2I2	Single nucleotide variant (synonymous 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 2167692	NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr)	DYNC2I2 (A219T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2167074	NM_052844.4(DYNC2I2):c.936C>T (p.Phe312=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2164990	NM_052844.4(DYNC2I2):c.44G>C (p.Ser15Thr)	DYNC2I2 (S15T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2164127	NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro)	DYNC2I2 (Q143P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163342	NM_052844.4(DYNC2I2):c.436-19G>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2163074	NM_052844.4(DYNC2I2):c.17A>C (p.Gln6Pro)	DYNC2I2 (Q6P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
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 2161323	NM_052844.4(DYNC2I2):c.435+16dup	DYNC2I2	Duplication (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	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

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