23389[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 1215451	NM_015335.5(MED13L):c.*285T>C	MED13L	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1266549	NM_015335.5(MED13L):c.*11A>G	MED13L	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 3124933	NM_015335.5(MED13L):c.6616A>G (p.Ile2206Val)	MED13L (I2206V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1712587	NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu)	MED13L (V2198L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098385	NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr)	MED13L (H2195Y)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2074262	NM_015335.5(MED13L):c.6582C>T (p.Val2194=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +1 more	GLikely benign
Select item 975438	NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)	MED13L (V2194I)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 2192079	NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GBenign
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 1285473	NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr)	MED13L (P2193T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 642696	NM_015335.5(MED13L):c.6570dup (p.Cys2191fs)	MED13L (C2191fs)	Duplication (frameshift variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 2192974	NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)	MED13L (S2190C)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 3390425	NM_015335.5(MED13L):c.6563G>A (p.Arg2188His)	MED13L (R2188H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960807	NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)	MED13L (R2188C)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 451351	NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)	MED13L (Q2186*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1704691	NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn)	MED13L (T2185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297680	NM_015335.5(MED13L):c.6549G>A (p.Pro2183=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 3025773	NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu)	MED13L (P2183L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464495	NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser)	MED13L (N2182S)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 1157440	NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 1309724	NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met)	MED13L (T2180M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697909	NM_015335.5(MED13L):c.6522C>T (p.Asn2174=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2443570	NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp)	MED13L (L2170W)	Single nucleotide variant (missense variant)	not provided	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 1553325	NM_015335.5(MED13L):c.6501-9C>G	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2143861	NM_015335.5(MED13L):c.6501-18G>C	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2168182	NM_015335.5(MED13L):c.6500+18C>T	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 620012	NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)	MED13L (S2163L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 718210	NM_015335.5(MED13L):c.6486G>A (p.Thr2162=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 224153	NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)	MED13L (T2162M)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +2 more	GPathogenic
Select item 817166	NM_015335.5(MED13L):c.6461dup (p.His2155fs)	MED13L (H2155fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2918341	NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)	MED13L (R2152W)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 3020990	NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 2020662	NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2577948	NM_015335.5(MED13L):c.6426dup (p.Glu2143fs)	MED13L (E2143fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 452776	NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)	MED13L (Q2140*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1710813	NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu)	MED13L (S2131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806954	NM_015335.5(MED13L):c.6388-2A>G	MED13L	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2911395	NM_015335.5(MED13L):c.6388-4C>T	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 1600457	NM_015335.5(MED13L):c.6388-7dup	MED13L	Duplication (intron variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 2801561	NM_015335.5(MED13L):c.6388-13G>A	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2882676	NM_015335.5(MED13L):c.6388-21CT[2]	MED13L	Microsatellite (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2176827	NM_015335.5(MED13L):c.6387+20A>G	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2833029	NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG	MED13L	Insertion (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2833030	NM_015335.5(MED13L):c.6387+8del	MED13L	Deletion (intron variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2042108	NM_015335.5(MED13L):c.6387+4G>C	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 3381251	NM_015335.5(MED13L):c.6380T>A (p.Phe2127Tyr)	MED13L (F2127Y)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3294006	NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)	MED13L (C2124*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2503218	NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg)	MED13L (Q2123R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916305	NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter)	MED13L (Q2123*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1167677	NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +1 more	GBenign
Select item 3393692	NM_015335.5(MED13L):c.6350G>T (p.Cys2117Phe)	MED13L (C2117F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698812	NM_015335.5(MED13L):c.6348G>A (p.Ser2116=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +1 more	GLikely benign
Select item 1015642	NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)	MED13L (S2116L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GUncertain significance
Select item 521253	NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter)	MED13L (W2112*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 2580165	NM_015335.5(MED13L):c.6331del (p.Gln2111fs)	MED13L (Q2111fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 521384	NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter)	MED13L (Q2111*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2860655	NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)	MED13L (P2110L)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 1089589	NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 643671	NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val)	MED13L (A2104V)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 1328743	NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser)	MED13L (A2104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805094	NM_015335.5(MED13L):c.6303A>G (p.Val2101=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 2725912	NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)	MED13L (V2101I)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 280413	NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)	MED13L (A2096fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2579461	NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)	MED13L (P2094S)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GPathogenic/Likely pathogenic
Select item 520657	NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr)	MED13L (P2094T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2717096	NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
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 976386	NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)	MED13L (Q2092E)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3389241	NM_015335.5(MED13L):c.6263A>C (p.Glu2088Ala)	MED13L (E2088A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626269	NM_015335.5(MED13L):c.6260del (p.Pro2087fs)	MED13L (P2087fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1502218	NM_015335.5(MED13L):c.6245T>A (p.Leu2082His)	MED13L (L2082H)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance
Select item 2007805	NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)	MED13L (L2081fs)	Duplication (frameshift variant)	Transposition of the great arteries, dextro-looped	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 1326486	NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg)	MED13L (S2076R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984749	NM_015335.5(MED13L):c.6226-1G>C	MED13L	Single nucleotide variant (splice acceptor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1259840	NM_015335.5(MED13L):c.6225+20C>T	MED13L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1319952	NM_015335.5(MED13L):c.6195dup (p.Gly2066fs)	MED13L (G2066fs)	Duplication (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2172202	NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
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 3375502	NM_015335.5(MED13L):c.6179G>C (p.Gly2060Ala)	MED13L (G2060A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582909	NM_015335.5(MED13L):c.6164del (p.Pro2055fs)	MED13L (P2055fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2767891	NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 431730	NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr)	MED13L (N2052T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1299588	NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser)	MED13L (P2051S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1804370	NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)	MED13L (L2047V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2037621	NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GLikely benign
Select item 221556	NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)	MED13L (G2040fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 2025913	NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped	GBenign
Select item 3391486	NM_015335.5(MED13L):c.6104T>C (p.Met2035Thr)	MED13L (M2035T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985400	NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe)	MED13L (V2027F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 429444	NM_015335.5(MED13L):c.6073dup (p.Met2025fs)	MED13L (M2025fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2108	NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly)	MED13L (D2023G)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GUncertain significance

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