ClinVar for MedGen (Select 301647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061842	GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1	SALL4	Copy number loss	Duane-radial ray syndrome	GUncertain significance
Select item 3016766	NM_020436.5(SALL4):c.986G>A (p.Arg329His)	SALL4 (R329H)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 3007965	NM_020436.5(SALL4):c.477A>G (p.Thr159=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 3002207	NM_020436.5(SALL4):c.2496C>T (p.Ala832=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2995951	NM_020436.5(SALL4):c.39C>T (p.Asn13=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2995950	NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu)	SALL4	Microsatellite (inframe_insertion)	Duane-radial ray syndrome	GUncertain significance
Select item 2970796	NM_020436.5(SALL4):c.1107G>A (p.Val369=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2962057	NM_020436.5(SALL4):c.889G>A (p.Ala297Thr)	SALL4 (A297T)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2959996	NM_020436.5(SALL4):c.9G>A (p.Arg3=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2956284	NM_020436.5(SALL4):c.573G>A (p.Val191=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2919129	NM_020436.5(SALL4):c.593C>T (p.Ala198Val)	SALL4 (A198V)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2913694	NM_020436.5(SALL4):c.1770G>A (p.Gly590=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2910361	NM_020436.5(SALL4):c.2373C>T (p.Ala791=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2907517	NM_020436.5(SALL4):c.1092G>A (p.Pro364=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2901988	NM_020436.5(SALL4):c.1671C>T (p.Asn557=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2901342	NM_020436.5(SALL4):c.1314C>T (p.Asn438=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2894201	NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg)	SALL4 (G557R +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2860880	NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)	SALL4 (S502P)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2855166	NM_020436.5(SALL4):c.2234G>A (p.Arg745His)	SALL4 (R745H)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2854663	NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala)	SALL4 (E694A)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2852001	NM_020436.5(SALL4):c.2253C>T (p.Asn751=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2835038	NM_020436.5(SALL4):c.1851A>G (p.Arg617=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2833864	NM_020436.5(SALL4):c.432G>A (p.Lys144=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2831583	NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg)	SALL4 (K426R)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2830167	NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr)	SALL4 (A574T +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2823244	NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln)	SALL4 (R573Q)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2819644	NM_020436.5(SALL4):c.789C>T (p.His263=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome +1 more	GLikely benign
Select item 2813402	NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe)	SALL4 (S564F +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2797035	NM_020436.5(SALL4):c.776C>T (p.Thr259Ile)	SALL4 (T259I)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2781940	NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile)	SALL4 (N453I)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2756707	NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp)	SALL4 (C683W)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2756162	NM_020436.5(SALL4):c.2424dup (p.Ala809fs)	SALL4 (A809fs)	Duplication (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2753344	NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys)	SALL4 (R491C +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2751725	NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp)	SALL4 (G545W)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2747079	NM_020436.5(SALL4):c.2765C>T (p.Ala922Val)	SALL4 (A485V +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2745399	NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)	SALL4 (A1051V +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 2738709	NM_020436.5(SALL4):c.888C>T (p.His296=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2738315	NM_020436.5(SALL4):c.412G>A (p.Gly138Ser)	SALL4 (G138S)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2737635	NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys)	SALL4 (S705C)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2733149	NM_020436.5(SALL4):c.2982G>T (p.Gly994=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2728404	NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)	SALL4 (F665fs)	Deletion (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2725550	NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala)	SALL4 (S753A)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2724107	NM_020436.5(SALL4):c.2151G>A (p.Ser717=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2703008	NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GBenign
Select item 2701971	NM_020436.5(SALL4):c.2944G>A (p.Val982Met)	SALL4 (V545M +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2696916	NM_020436.5(SALL4):c.2352C>A (p.Ser784=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2652413	NM_020436.5(SALL4):c.1512C>T (p.Pro504=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2637503	NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)	SALL4 (L335F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2633659	NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)	SALL4 (C415fs)	Microsatellite (frameshift variant +1 more)	Duane-radial ray syndrome +1 more	GPathogenic
Select item 2580907	NM_020436.5(SALL4):c.3058del (p.Gln1020fs)	SALL4 (Q1020fs +1 more)	Deletion (frameshift variant)	Duane-radial ray syndrome	GLikely pathogenic
Select item 2502302	NM_020436.5(SALL4):c.2456dup (p.Met819fs)	SALL4 (M819fs)	Duplication (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2426552	NC_000020.10:g.(?_50400804)_(50401243_?)del	SALL4	Deletion	Duane-radial ray syndrome	GLikely pathogenic
Select item 2425842	NM_020436.5(SALL4):c.531C>T (p.Ala177=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2414472	NM_020436.5(SALL4):c.1125C>T (p.Asp375=)	SALL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2412780	NM_020436.5(SALL4):c.1625del (p.Pro542fs)	SALL4 (P542fs)	Deletion (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2380344	NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)	SALL4 (S1021L +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2238011	NM_020436.5(SALL4):c.646G>A (p.Glu216Lys)	SALL4 (E216K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201464	NM_020436.5(SALL4):c.2462-13C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GLikely benign
Select item 2198167	NM_020436.5(SALL4):c.213G>A (p.Thr71=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2197040	NM_020436.5(SALL4):c.1698C>T (p.Asn566=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2194236	NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys)	SALL4 (R586C)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2190976	NM_020436.5(SALL4):c.540_541inv (p.Val181Met)	SALL4 (V181M)	Inversion (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2188603	NM_020436.5(SALL4):c.159C>T (p.Asp53=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2153821	NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)	SALL4 (R745C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2150726	NM_020436.5(SALL4):c.599C>T (p.Ala200Val)	SALL4 (A200V)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2147436	NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)	SALL4 (G340S)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GLikely benign
Select item 2147131	NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn)	SALL4 (D692N)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2143510	NM_020436.5(SALL4):c.2163G>A (p.Thr721=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 2138216	NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys)	SALL4 (E444K)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2099968	NM_020436.5(SALL4):c.575C>A (p.Ala192Glu)	SALL4 (A192E)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome +1 more	GUncertain significance
Select item 2087818	NM_020436.5(SALL4):c.474_475del (p.Glu158fs)	SALL4 (E158fs)	Microsatellite (frameshift variant)	Duane-radial ray syndrome	GPathogenic
Select item 2086094	NM_020436.5(SALL4):c.2743-3T>C	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2081692	NM_020436.5(SALL4):c.485C>T (p.Pro162Leu)	SALL4 (P162L)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2076746	NM_020436.5(SALL4):c.588G>A (p.Arg196=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2062452	NM_020436.5(SALL4):c.596A>G (p.Asp199Gly)	SALL4 (D199G)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2061353	NM_020436.5(SALL4):c.526G>A (p.Val176Met)	SALL4 (V176M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2056237	NM_020436.5(SALL4):c.2743-5C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GLikely benign
Select item 2053178	NM_020436.5(SALL4):c.2742+16C>T	SALL4	Single nucleotide variant (intron variant)	Duane-radial ray syndrome	GBenign
Select item 2043078	NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys)	SALL4 (R402C)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 2040040	NM_020436.5(SALL4):c.339A>G (p.Glu113=)	SALL4	Single nucleotide variant (synonymous variant)	SALL4-related condition +1 more	GBenign/Likely benign
Select item 2038237	NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu)	SALL4 (S491L)	Single nucleotide variant (missense variant +1 more)	SALL4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2035463	NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)	SALL4 (S491*)	Single nucleotide variant (nonsense +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2024717	NM_020436.5(SALL4):c.2872C>T (p.Leu958=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 2019019	NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu)	SALL4 (A377E)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2015460	NM_020436.5(SALL4):c.2280dup (p.Asn761fs)	SALL4 (N761fs)	Duplication (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic
Select item 2012178	NM_020436.5(SALL4):c.31C>T (p.His11Tyr)	SALL4 (H11Y)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 2012176	NM_020436.5(SALL4):c.33C>T (p.His11=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 1998725	NM_020436.5(SALL4):c.1660T>C (p.Leu554=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 1988477	NM_020436.5(SALL4):c.853T>C (p.Ser285Pro)	SALL4 (S285P)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1980092	NM_020436.5(SALL4):c.1209C>T (p.Ser403=)	SALL4	Single nucleotide variant (synonymous variant +1 more)	Duane-radial ray syndrome	GLikely benign
Select item 1972057	NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del)	SALL4	Deletion (inframe_deletion +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 1957089	NM_020436.5(SALL4):c.122G>A (p.Gly41Glu)	SALL4 (G41E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1955143	NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 1954183	NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr)	SALL4 (K360T)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1952079	NM_020436.5(SALL4):c.770T>G (p.Leu257Arg)	SALL4 (L257R)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1948427	NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro)	SALL4 (A437P)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 1926475	NM_020436.5(SALL4):c.891C>T (p.Ala297=)	SALL4	Single nucleotide variant (synonymous variant)	Duane-radial ray syndrome	GLikely benign
Select item 1922212	NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu)	SALL4 (P834L +1 more)	Single nucleotide variant (missense variant)	Duane-radial ray syndrome	GUncertain significance
Select item 1898374	NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys)	SALL4 (E689K)	Single nucleotide variant (missense variant +1 more)	Duane-radial ray syndrome	GUncertain significance
Select item 1806356	NM_020436.5(SALL4):c.2252del (p.Asn751fs)	SALL4 (N751fs)	Deletion (frameshift variant +1 more)	Duane-radial ray syndrome	GPathogenic

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