ClinVar for MedGen (Select 907651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367116	NM_001371986.1(UNC80):c.9193T>A (p.Phe3065Ile)	UNC80 (F2994I +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3362748	NM_001371986.1(UNC80):c.265A>G (p.Thr89Ala)	UNC80 (T89A)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3242143	NM_001371986.1(UNC80):c.4646A>G (p.His1549Arg)	UNC80 (H1478R +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3242142	NM_001371986.1(UNC80):c.9922A>G (p.Thr3308Ala)	UNC80 (T3218A +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3068002	NM_001371986.1(UNC80):c.6178+1G>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2920703	NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)	UNC80 (R2113* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 2627926	NM_001371986.1(UNC80):c.8218_8219insTGAA (p.Ser2740fs)	UNC80 (S2669fs +2 more)	Insertion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 2505079	NM_001371986.1(UNC80):c.2287G>A (p.Gly763Ser)	UNC80 (G763S)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Gnot provided
Select item 2441932	NM_001371986.1(UNC80):c.3653C>T (p.Ala1218Val)	LOC121725110, UNC80 (A1215V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438489	NM_001371986.1(UNC80):c.764G>A (p.Cys255Tyr)	UNC80 (C255Y)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438488	NM_001371986.1(UNC80):c.9418C>T (p.Arg3140Cys)	UNC80 (R3050C +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438487	NM_001371986.1(UNC80):c.7843C>G (p.Pro2615Ala)	UNC80 (P2544A +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438486	NM_001371986.1(UNC80):c.4229_4240del (p.Ser1410_His1413del)	UNC80	Deletion (inframe_deletion)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438485	NM_001371986.1(UNC80):c.6680A>G (p.Gln2227Arg)	UNC80 (Q2156R +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2434438	NM_001371986.1(UNC80):c.7222del (p.Ser2408fs)	UNC80 (S2337fs +2 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 2192960	NM_001371986.1(UNC80):c.9345A>G (p.Gln3115=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GConflicting classifications of pathogenicity
Select item 2159369	NM_001371986.1(UNC80):c.9708+1G>A	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GConflicting classifications of pathogenicity
Select item 1940876	NM_001371986.1(UNC80):c.4658A>T (p.His1553Leu)	UNC80 (H1487L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1911417	NM_001371986.1(UNC80):c.5275A>G (p.Met1759Val)	LOC126806490, UNC80 (M1693V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1805379	NM_001371986.1(UNC80):c.8513C>G (p.Ser2838Cys)	UNC80 (S2767C +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1802583	NM_001371986.1(UNC80):c.3977-1G>T	UNC80	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 1712512	NM_001371986.1(UNC80):c.5132T>G (p.Val1711Gly)	LOC126806490, UNC80 (V1640G +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1712282	NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs)	UNC80 (Y2408fs +2 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 1699471	NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter)	UNC80 (Q2255* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1699440	NM_001371986.1(UNC80):c.8772+1G>A	UNC80	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1684257	NM_001371986.1(UNC80):c.9119-36A>G	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1684241	NM_001371986.1(UNC80):c.3250+46C>A	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1679102	NM_001371986.1(UNC80):c.8954C>T (p.Thr2985Ile)	UNC80 (T2914I +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Gnot provided
Select item 1663938	NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign/Likely benign
Select item 1649582	NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1603837	NM_001371986.1(UNC80):c.3149C>T (p.Thr1050Ile)	UNC80 (T1045I +1 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GConflicting classifications of pathogenicity
Select item 1601301	NM_001371986.1(UNC80):c.7806-17AT[7]	UNC80	Microsatellite (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign/Likely benign
Select item 1575872	NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr)	UNC80 (M2182T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1571738	NM_001371986.1(UNC80):c.1689G>A (p.Lys563=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1521559	NM_001371986.1(UNC80):c.4110+1G>C	UNC80	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1518518	NM_001371986.1(UNC80):c.298+2T>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GConflicting classifications of pathogenicity
Select item 1518087	NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met)	UNC80 (T3076M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1503935	NM_001371986.1(UNC80):c.4622C>T (p.Thr1541Ile)	UNC80 (T1470I +2 more)	Single nucleotide variant (missense variant)	UNC80-related disorder +4 more	GUncertain significance
Select item 1502954	NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr)	UNC80 (M2072T +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1490504	NM_001371986.1(UNC80):c.8543G>A (p.Arg2848His)	UNC80 (R2777H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481860	NM_001371986.1(UNC80):c.6381T>G (p.Ile2127Met)	UNC80 (I2127M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1463958	NM_001371986.1(UNC80):c.840C>G (p.Ile280Met)	UNC80 (I280M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1457621	NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter)	UNC80 (R1355* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 1446832	NM_001371986.1(UNC80):c.3916G>A (p.Asp1306Asn)	UNC80 (D1303N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403266	NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys)	UNC80 (R489C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1375398	NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met)	UNC80 (V2836M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1373605	NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter)	UNC80 (R96*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1367852	NM_001371986.1(UNC80):c.8324G>A (p.Gly2775Glu)	UNC80 (G2775E +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GUncertain significance
Select item 1352162	NM_001371986.1(UNC80):c.9119-1_9119insGAG	UNC80	Insertion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 1351218	NM_001371986.1(UNC80):c.2528G>A (p.Arg843Gln)	UNC80 (R838Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342393	NM_001371986.1(UNC80):c.9934C>A (p.Leu3312Met)	UNC80 (L3222M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1325332	NM_001371986.1(UNC80):c.4582-2A>G	UNC80	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 1323742	NM_001371986.1(UNC80):c.2331+1G>T	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1323741	NM_001371986.1(UNC80):c.2914C>T (p.Gln972Ter)	UNC80 (Q967* +1 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1315160	NM_001371986.1(UNC80):c.4508C>T (p.Pro1503Leu)	UNC80 (P1432L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299434	NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe)	UNC80 (S139F)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1299421	NM_001371986.1(UNC80):c.9725C>A (p.Thr3242Asn)	UNC80 (T3152N +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1299420	NM_001371986.1(UNC80):c.7415C>T (p.Thr2472Met)	UNC80 (T2401M +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1283225	NM_001371986.1(UNC80):c.3455-13A>G	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254153	NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys)	UNC80 (E3203K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1249009	NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1233025	NM_001371986.1(UNC80):c.3977-4C>A	UNC80	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1177401	NM_001371986.1(UNC80):c.8251A>T (p.Ile2751Leu)	UNC80 (I2680L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1032293	NM_001371986.1(UNC80):c.9888G>C (p.Met3296Ile)	UNC80 (M3206I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032292	NM_001371986.1(UNC80):c.9875A>G (p.Glu3292Gly)	UNC80 (E3202G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032291	NM_001371986.1(UNC80):c.9472A>C (p.Thr3158Pro)	UNC80 (T3068P +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1032290	NM_001371986.1(UNC80):c.8326A>T (p.Met2776Leu)	UNC80 (M2710L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1032289	NM_001371986.1(UNC80):c.7937C>T (p.Pro2646Leu)	UNC80 (P2575L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1032288	NM_001371986.1(UNC80):c.7888A>G (p.Ile2630Val)	UNC80 (I2564V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032287	NM_001371986.1(UNC80):c.673G>A (p.Gly225Arg)	UNC80 (G225R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032286	NM_001371986.1(UNC80):c.5860A>G (p.Thr1954Ala)	UNC80 (T1883A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032285	NM_001371986.1(UNC80):c.4781A>T (p.Glu1594Val)	UNC80 (E1528V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1031505	NM_001371986.1(UNC80):c.4189G>T (p.Val1397Phe)	UNC80 (V1394F +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1031504	NM_001371986.1(UNC80):c.4099G>C (p.Glu1367Gln)	UNC80 (E1367Q +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031503	NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)	UNC80 (S1114T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1031502	NM_001371986.1(UNC80):c.2436_2444del (p.Leu813_Gly815del)	UNC80	Deletion (inframe_deletion)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1031501	NM_001371986.1(UNC80):c.1685T>A (p.Val562Asp)	LOC122861286, UNC80 (V562D)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1031500	NM_001371986.1(UNC80):c.1544C>A (p.Thr515Asn)	UNC80 (T515N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031499	NM_001371986.1(UNC80):c.1418G>A (p.Gly473Glu)	UNC80 (G473E)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1031498	NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro)	UNC80 (L438P)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1028962	NM_001371986.1(UNC80):c.9274G>A (p.Asp3092Asn)	UNC80 (D3026N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1028459	NM_001371986.1(UNC80):c.9191G>A (p.Arg3064Gln)	UNC80 (R2993Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028457	NM_001371986.1(UNC80):c.8773-16T>C	UNC80	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1028456	NM_001371986.1(UNC80):c.7880G>A (p.Arg2627Gln)	UNC80 (R2556Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1028455	NM_001371986.1(UNC80):c.3589A>G (p.Ile1197Val)	UNC80 (I1199V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028454	NM_001371986.1(UNC80):c.3283C>T (p.Leu1095=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028453	NM_001371986.1(UNC80):c.3160A>C (p.Thr1054Pro)	UNC80 (T1049P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028452	NM_001371986.1(UNC80):c.3042-1G>T	UNC80	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 1028451	NM_001371986.1(UNC80):c.3020G>C (p.Arg1007Pro)	UNC80 (R1002P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028450	NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu)	UNC80 (G738E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028449	NM_001371986.1(UNC80):c.1910A>G (p.His637Arg)	UNC80 (H637R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028448	NM_001371986.1(UNC80):c.1696C>T (p.Arg566Ter)	UNC80 (R566*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 993028	NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)	UNC80 (R137*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 982105	NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val)	UNC80 (E2968V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 976333	NM_001371986.1(UNC80):c.6646+1del	UNC80	Deletion (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 973306	NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)	UNC80 (I2989T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973277	NM_001371986.1(UNC80):c.7394C>T (p.Ala2465Val)	UNC80 (A2399V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915342	NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)	UNC80 (V1791fs +2 more)	Microsatellite (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic/Likely pathogenic
Select item 829817	NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)	UNC80 (T2567fs +2 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic/Likely pathogenic
Select item 829816	NM_001371986.1(UNC80):c.1357del (p.Arg453fs)	UNC80 (R453fs)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic

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