ClinVar for Gene (Select 23389) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377902	NM_015335.5(MED13L):c.5870G>T (p.Gly1957Val)	MED13L (G1957V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3375502	NM_015335.5(MED13L):c.6179G>C (p.Gly2060Ala)	MED13L (G2060A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375353	NM_015335.5(MED13L):c.4621A>G (p.Thr1541Ala)	MED13L (T1541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373719	NM_015335.5(MED13L):c.5281C>G (p.Pro1761Ala)	MED13L (P1761A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373465	NM_015335.5(MED13L):c.2572G>T (p.Val858Phe)	MED13L (V858F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371953	NM_015335.5(MED13L):c.3611G>A (p.Cys1204Tyr)	MED13L (C1204Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370746	NM_015335.5(MED13L):c.14C>G (p.Ala5Gly)	MED13L (A5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370680	NM_015335.5(MED13L):c.3034T>C (p.Tyr1012His)	MED13L (Y1012H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370638	NM_015335.5(MED13L):c.3943A>T (p.Ile1315Phe)	MED13L (I1315F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369226	NM_015335.5(MED13L):c.820+4A>G	MED13L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369223	NM_015335.5(MED13L):c.6577C>G (p.Pro2193Ala)	MED13L (P2193A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368887	NM_015335.5(MED13L):c.2249G>A (p.Gly750Glu)	MED13L (G750E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367330	NM_015335.5(MED13L):c.2206G>A (p.Gly736Arg)	MED13L (G736R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3366040	NM_015335.5(MED13L):c.5073G>C (p.Glu1691Asp)	MED13L (E1691D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365205	NM_015335.5(MED13L):c.1598C>T (p.Ser533Phe)	MED13L (S533F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363857	NM_015335.5(MED13L):c.5707C>T (p.Arg1903Cys)	MED13L (R1903C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363848	NM_015335.5(MED13L):c.3257C>A (p.Pro1086His)	MED13L (P1086H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363449	NM_015335.5(MED13L):c.2987A>G (p.Asp996Gly)	MED13L (D996G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3362090	NM_015335.5(MED13L):c.6446A>G (p.Asn2149Ser)	MED13L (N2149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361934	NM_015335.5(MED13L):c.1307T>C (p.Val436Ala)	MED13L (V436A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361266	NM_015335.5(MED13L):c.1642C>T (p.Pro548Ser)	MED13L (P548S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360901	NM_015335.5(MED13L):c.1399C>T (p.His467Tyr)	MED13L (H467Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359906	NM_015335.5(MED13L):c.1946C>T (p.Pro649Leu)	MED13L (P649L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3356301	NM_015335.5(MED13L):c.5482G>A (p.Val1828Met)	MED13L (V1828M)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3356053	NM_015335.5(MED13L):c.1033G>A (p.Ala345Thr)	MED13L (A345T)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3348530	NM_015335.5(MED13L):c.1541A>G (p.Asp514Gly)	MED13L (D514G)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3347896	NM_015335.5(MED13L):c.5008A>C (p.Ser1670Arg)	MED13L (S1670R)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3346202	NM_015335.5(MED13L):c.1588G>C (p.Ala530Pro)	MED13L (A530P)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3345502	NM_015335.5(MED13L):c.2824C>T (p.Gln942Ter)	MED13L (Q942*)	Single nucleotide variant (nonsense)	MED13L-related disorder	GLikely pathogenic
Select item 3341999	NM_015335.5(MED13L):c.3797C>T (p.Ala1266Val)	MED13L (A1266V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341049	NM_015335.5(MED13L):c.5246C>G (p.Ser1749Cys)	MED13L (S1749C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340727	NM_015335.5(MED13L):c.6022G>T (p.Ala2008Ser)	MED13L (A2008S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3339639	NM_015335.5(MED13L):c.1271C>T (p.Ser424Phe)	MED13L (S424F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337671	NM_015335.5(MED13L):c.3385_3391delinsAAA (p.Asp1129fs)	MED13L (D1129fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3337281	NM_015335.5(MED13L):c.4471G>T (p.Glu1491Ter)	MED13L (E1491*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3294013	NM_015335.5(MED13L):c.3597G>T (p.Arg1199Ser)	MED13L (R1199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294011	NM_015335.5(MED13L):c.3757A>G (p.Thr1253Ala)	MED13L (T1253A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294010	NM_015335.5(MED13L):c.1007T>C (p.Leu336Pro)	MED13L (L336P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3294009	NM_015335.5(MED13L):c.128G>C (p.Cys43Ser)	MED13L (C43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294008	NM_015335.5(MED13L):c.4296A>T (p.Glu1432Asp)	MED13L (E1432D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294007	NM_015335.5(MED13L):c.6067+1G>A	MED13L	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3294006	NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)	MED13L (C2124*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3294005	NM_015335.5(MED13L):c.5692A>T (p.Ile1898Phe)	MED13L (I1898F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3253224	NM_015335.5(MED13L):c.3161C>T (p.Pro1054Leu)	MED13L (P1054L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252969	NM_015335.5(MED13L):c.374C>T (p.Ala125Val)	MED13L (A125V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252796	NM_015335.5(MED13L):c.5248A>C (p.Met1750Leu)	MED13L (M1750L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252706	NM_015335.5(MED13L):c.6008C>T (p.Ser2003Leu)	MED13L (S2003L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251049	NM_015335.5(MED13L):c.2584C>T (p.Gln862Ter)	MED13L (Q862*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3244301	NC_000012.11:g.(?_116534474)_(116675510_?)del	MED13L	Deletion	Transposition of the great arteries, dextro-looped	GPathogenic
Select item 3244300	NC_000012.11:g.(?_116440808)_(116440907_?)del	MED13L	Deletion	Transposition of the great arteries, dextro-looped	GPathogenic
Select item 3242281	GRCh37/hg19 12q24.21(chr12:116472293-116558850)x2	MED13L	Copy number loss	not provided	GLikely pathogenic
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 3239210	NM_015335.5(MED13L):c.3129C>T (p.Thr1043=)	MED13L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3124937	NM_015335.5(MED13L):c.839A>G (p.Tyr280Cys)	MED13L (Y280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124936	NM_015335.5(MED13L):c.760A>G (p.Lys254Glu)	MED13L (K254E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124935	NM_015335.5(MED13L):c.682T>G (p.Ser228Ala)	MED13L (S228A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124934	NM_015335.5(MED13L):c.681G>T (p.Met227Ile)	MED13L (M227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124933	NM_015335.5(MED13L):c.6616A>G (p.Ile2206Val)	MED13L (I2206V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124932	NM_015335.5(MED13L):c.5029G>T (p.Val1677Phe)	MED13L (V1677F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124931	NM_015335.5(MED13L):c.5009G>C (p.Ser1670Thr)	MED13L (S1670T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124930	NM_015335.5(MED13L):c.4905C>A (p.Asp1635Glu)	MED13L (D1635E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124928	NM_015335.5(MED13L):c.4414G>A (p.Ala1472Thr)	MED13L (A1472T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124927	NM_015335.5(MED13L):c.3644C>G (p.Thr1215Ser)	MED13L (T1215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124926	NM_015335.5(MED13L):c.3552G>C (p.Leu1184Phe)	MED13L (L1184F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124924	NM_015335.5(MED13L):c.1649C>T (p.Ser550Phe)	MED13L (S550F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124923	NM_015335.5(MED13L):c.10G>A (p.Ala4Thr)	MED13L (A4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124922	NM_015335.5(MED13L):c.1025T>C (p.Met342Thr)	MED13L (M342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3075950	NM_015335.5(MED13L):c.2844del (p.Met949fs)	MED13L (M949fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 3069099	NM_015335.5(MED13L):c.190C>G (p.Leu64Val)	MED13L (L64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063257	GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1	MED13L	Copy number loss	not specified	GPathogenic
Select item 3063253	GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1	MED13L	Copy number loss	not specified	GPathogenic
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 3061405	NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del)	MED13L	Deletion	MED13L-related disorder	GUncertain significance
Select item 3061361	NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu)	MED13L (P1798L)	Single nucleotide variant (missense variant)	MED13L-related disorder	GUncertain significance
Select item 3061080	NM_015335.5(MED13L):c.3319del (p.His1107fs)	MED13L (H1107fs)	Deletion (frameshift variant)	MED13L-related disorder	GLikely pathogenic
Select item 3059583	NM_015335.5(MED13L):c.5950C>T (p.Gln1984Ter)	MED13L (Q1984*)	Single nucleotide variant (nonsense)	MED13L-related disorder	GLikely pathogenic
Select item 3049062	NM_015335.5(MED13L):c.2013-7_2013-6del	MED13L	Deletion (intron variant)	MED13L-related disorder	GLikely benign
Select item 3041496	NM_015335.5(MED13L):c.2013-7C>G	MED13L	Single nucleotide variant (intron variant)	MED13L-related disorder	GLikely benign
Select item 3036517	NM_015335.5(MED13L):c.1709G>A (p.Ser570Asn)	MED13L (S570N)	Single nucleotide variant (missense variant)	MED13L-related disorder	GLikely benign

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