ClinVar for MedGen (Select 900924) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377244	NM_015335.5(MED13L):c.2636del (p.Pro879fs)	MED13L (P879fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3376243	NM_015335.5(MED13L):c.1991C>T (p.Ser664Leu)	MED13L (S664L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3376191	NM_015335.5(MED13L):c.1822C>G (p.Leu608Val)	MED13L (L608V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3376159	NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)	MED13L (F865L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3366964	NM_015335.5(MED13L):c.347A>G (p.Tyr116Cys)	MED13L (Y116C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3363192	NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)	MED13L (E1918fs)	Insertion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3362904	NM_015335.5(MED13L):c.758del (p.Glu252_Ser253insTer)	MED13L	Deletion (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3362313	NM_015335.5(MED13L):c.5273G>C (p.Cys1758Ser)	MED13L (C1758S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3362241	NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)	MED13L (S1667fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 3359035	NM_015335.5(MED13L):c.2569+8G>A	MED13L	Single nucleotide variant (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3358957	NM_015335.5(MED13L):c.57del (p.Asn20fs)	MED13L (N20fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3358921	NM_015335.5(MED13L):c.6392C>G (p.Ser2131Trp)	MED13L (S2131W)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3358917	NM_015335.5(MED13L):c.864_865del (p.Gln289fs)	MED13L (Q289fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3256760	NM_015335.5(MED13L):c.3396C>A (p.Cys1132Ter)	MED13L (C1132*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3254682	NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter)	MED13L (Q2093*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3242035	NM_015335.5(MED13L):c.1802T>C (p.Leu601Pro)	MED13L (L601P)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3238750	NM_015335.5(MED13L):c.6393_6415delinsAC (p.Leu2132_Ala2139delinsPro)	MED13L	Indel (inframe_indel)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3236367	NM_015335.5(MED13L):c.5586del (p.Asn1862fs)	MED13L (N1862fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3233812	NM_015335.5(MED13L):c.6501-2del	MED13L	Deletion (splice acceptor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3066081	NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter)	MED13L (W2112*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3065202	NM_015335.5(MED13L):c.4537T>C (p.Tyr1513His)	MED13L (Y1513H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3062233	NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)	MED13L (P869L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3061885	NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)	MED13L (K678fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3027443	NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)	MED13L (S180T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3024220	NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)	MED13L (E1908Q)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2921223	NM_015335.5(MED13L):c.338G>T (p.Gly113Val)	MED13L (G113V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2921078	NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)	MED13L (R277G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2719011	NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln)	MED13L (R379Q)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GUncertain significance
Select item 2689417	NM_015335.5(MED13L):c.227T>C (p.Val76Ala)	MED13L (V76A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2689416	NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)	MED13L (C425S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2687879	NM_015335.5(MED13L):c.3459del (p.Asn1154fs)	MED13L (N1154fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2672107	NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)	MED13L (T1395A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2663950	NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln)	MED13L (K743Q)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2643371	NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)	MED13L (Q201E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627604	NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)	MED13L (S1913C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2585338	NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)	MED13L (D16G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2582450	NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)	MED13L (R73C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2580945	NM_015335.5(MED13L):c.610C>G (p.Pro204Ala)	MED13L (P204A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2580165	NM_015335.5(MED13L):c.6331del (p.Gln2111fs)	MED13L (Q2111fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2579163	NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)	MED13L (E2079fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2578397	NM_015335.5(MED13L):c.1744del (p.Leu582fs)	MED13L (L582fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2572998	NM_015335.5(MED13L):c.4108_4114+3del	MED13L	Deletion (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2500293	NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)	MED13L (Y1680C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2497747	NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)	MED13L (E1378*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2444237	NM_015335.5(MED13L):c.889_890del (p.Ser297fs)	MED13L (S297fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2441762	NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)	MED13L (N1175S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2441703	NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)	MED13L (P1379L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2433722	NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)	MED13L (Q2119R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433721	NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)	MED13L (S1578C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2433720	NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)	MED13L (W381R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433719	NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)	MED13L (I2209T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433718	NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)	MED13L (C423G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433717	NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)	MED13L (K1458R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433716	NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)	MED13L (G337D)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GConflicting classifications of pathogenicity
Select item 2433715	NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)	MED13L (S300C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433714	NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)	MED13L (L582P)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433713	NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)	MED13L (S160G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433712	NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)	MED13L (P2062S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433711	NM_015335.5(MED13L):c.2952A>G (p.Gln984=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433710	NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)	MED13L (M1732V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433709	NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)	MED13L (H348Y)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433708	NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)	MED13L (M356R)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433707	NM_015335.5(MED13L):c.2598C>T (p.Pro866=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433706	NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)	MED13L (F1276L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433705	NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)	MED13L (R995G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433704	NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)	MED13L (A977T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2433703	NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)	MED13L (Q1650H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2431501	NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu)	MED13L (D1462E)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2430165	NM_015335.5(MED13L):c.4086C>T (p.Phe1362=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2295045	NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)	MED13L (D1669N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228624	NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)	MED13L (N1311S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2159517	NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)	MED13L (R1933W)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 2096582	NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)	MED13L (E1651D)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 1805842	NM_015335.5(MED13L):c.6039del (p.Asn2014fs)	MED13L (N2014fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805835	NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal)	MED13L	Insertion (inframe_insertion)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely benign
Select item 1805438	NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala)	MED13L (T358A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely benign
Select item 1805397	NM_015335.5(MED13L):c.2013-1G>T	MED13L	Single nucleotide variant (splice acceptor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1805357	NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)	MED13L	Deletion (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805356	NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)	MED13L (T1565I)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1805347	NM_015335.5(MED13L):c.4087del (p.His1363fs)	MED13L (H1363fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GPathogenic
Select item 1805335	NM_015335.5(MED13L):c.278del (p.Asn93fs)	MED13L (N93fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805304	NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)	MED13L	Deletion (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805294	NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)	MED13L (Q2006fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1802574	NM_015335.5(MED13L):c.5364+1G>T	MED13L	Single nucleotide variant (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1722316	NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)	MED13L (I1338fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1709184	NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)	MED13L (Y1012fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1708981	NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)	MED13L (P1210fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1708961	NM_015335.5(MED13L):c.799G>A (p.Val267Met)	MED13L (V267M)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1701743	NM_015335.5(MED13L):c.319dup (p.Glu107fs)	MED13L (E107fs)	Duplication (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1700210	NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)	MED13L (W110*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1700209	NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)	MED13L (Q1981*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1699470	NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met)	MED13L (T1273M)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1699335	NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)	MED13L (Q1069*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1699309	NM_015335.5(MED13L):c.404T>C (p.Met135Thr)	MED13L (M135T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1699227	NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala)	MED13L (P879A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1699209	NM_015335.5(MED13L):c.5364+1dup	MED13L	Duplication (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1698878	NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly)	MED13L (S1597G)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1693107	NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys)	MED13L (Y1420C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1687615	NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)	MED13L (D1117fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1687298	NM_015335.5(MED13L):c.3380del (p.Asn1127fs)	MED13L (N1127fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic

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