SON[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1252992	NC_000021.9:g.33543018C>G	SON	Single nucleotide variant	not provided	GBenign
Select item 1294947	NC_000021.9:g.33543019G>C	SON	Single nucleotide variant	not provided	GBenign
Select item 2164069	NM_138927.4(SON):c.9C>T (p.Thr3=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 817560	NM_138927.4(SON):c.27dup (p.Arg10Ter)	SON (R10*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 3321430	NM_138927.4(SON):c.27del (p.Phe9fs)	SON (F9fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2826804	NM_138927.4(SON):c.30G>C (p.Arg10Ser)	SON (R10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2019847	NM_138927.4(SON):c.42C>T (p.Val14=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2023776	NM_138927.4(SON):c.48A>G (p.Lys16=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898537	NM_138927.4(SON):c.53G>T (p.Arg18Leu)	SON (R18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504070	NM_138927.4(SON):c.58_59insGC (p.Ile20fs)	SON (I20fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1392988	NM_138927.4(SON):c.77+6C>G	SON	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1923147	NM_138927.4(SON):c.77+19C>A	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603796	NM_138927.4(SON):c.78-20C>T	SON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1918230	NM_138927.4(SON):c.78-18A>G	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1722479	NM_138927.4(SON):c.78-9C>T	SON	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2416753	NM_138927.4(SON):c.78-3A>T	SON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1323633	NM_138927.4(SON):c.78-1G>A	SON	Single nucleotide variant (splice acceptor variant)	ZTTK syndrome	GPathogenic
Select item 1895800	NM_138927.4(SON):c.99G>A (p.Leu33=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720940	NM_138927.4(SON):c.111A>G (p.Thr37=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1723129	NM_138927.4(SON):c.117del (p.Ile41fs)	SON (I41fs)	Deletion (frameshift variant +1 more)	ZTTK syndrome	GPathogenic
Select item 1646214	NM_138927.4(SON):c.120C>T (p.Pro40=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169852	NM_138927.4(SON):c.121A>G (p.Ile41Val)	SON (I41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636632	NM_138927.4(SON):c.134A>C (p.Gln45Pro)	SON (Q45P)	Single nucleotide variant (missense variant +1 more)	SON-related disorder +1 more	GUncertain significance
Select item 2652605	NM_138927.4(SON):c.138G>A (p.Ala46=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2260152	NM_138927.4(SON):c.140G>A (p.Gly47Asp)	SON (G47D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189568	NM_138927.4(SON):c.146C>T (p.Ala49Val)	SON (A49V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718181	NM_138927.4(SON):c.146C>G (p.Ala49Gly)	SON (A49G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2303373	NM_138927.4(SON):c.162G>C (p.Arg54Ser)	SON (R54S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2122882	NM_138927.4(SON):c.171A>G (p.Pro57=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991957	NM_138927.4(SON):c.174T>A (p.Asn58Lys)	SON (N58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2840570	NM_138927.4(SON):c.177A>G (p.Glu59=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1652426	NM_138927.4(SON):c.179A>C (p.Glu60Ala)	SON (E60A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2859065	NM_138927.4(SON):c.181A>G (p.Ile61Val)	SON (I61V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2108995	NM_138927.4(SON):c.195A>T (p.Ile65=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2436222	NM_138927.4(SON):c.196G>A (p.Glu66Lys)	SON (E66K)	Single nucleotide variant (missense variant +1 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1331256	NM_138927.4(SON):c.201A>G (p.Glu67=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2431516	NM_138927.4(SON):c.202_203del (p.Val68fs)	SON (V68fs)	Deletion (frameshift variant +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 2840972	NM_138927.4(SON):c.221A>G (p.Asp74Gly)	SON (D74G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652606	NM_138927.4(SON):c.222T>C (p.Asp74=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2247237	NM_138927.4(SON):c.223A>G (p.Thr75Ala)	SON (T75A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500889	NM_138927.4(SON):c.232C>T (p.Arg78Ter)	SON (R78*)	Single nucleotide variant (nonsense +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 985682	NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer)	SON	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2150727	NM_138927.4(SON):c.237T>C (p.Tyr79=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963635	NM_138927.4(SON):c.240G>A (p.Lys80=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2577605	NM_138927.4(SON):c.242C>T (p.Pro81Leu)	SON (P81L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 996849	NM_138927.4(SON):c.245-485_273delinsGTTG	SON	Indel (splice acceptor variant +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 1992119	NM_138927.4(SON):c.245-11A>G	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054931	NM_138927.4(SON):c.245-7C>T	SON	Single nucleotide variant (intron variant)	SON-related disorder	GLikely benign
Select item 617867	NM_138927.4(SON):c.268del (p.Ser90fs)	SON (S90fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2730771	NM_138927.4(SON):c.270_272del (p.Ser90del)	SON (S90del)	Deletion (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 1902660	NM_138927.4(SON):c.276C>T (p.Cys92=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 252926	NM_138927.4(SON):c.286C>T (p.Gln96Ter)	SON (Q96*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2662058	NM_138927.4(SON):c.287A>G (p.Gln96Arg)	SON (Q96R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1476966	NM_138927.4(SON):c.307A>G (p.Ile103Val)	SON (I103V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1953303	NM_138927.4(SON):c.313A>G (p.Thr105Ala)	SON (T105A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2585515	NM_138927.4(SON):c.320dup (p.Ser108fs)	SON (S108fs)	Duplication (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2187105	NM_138927.4(SON):c.347A>G (p.Asn116Ser)	SON (N116S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3003499	NM_138927.4(SON):c.352AAGAAGAAA[1] (p.Lys121_Lys123del)	SON	Microsatellite (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 2751309	NM_138927.4(SON):c.354GAA[1] (p.Lys123del)	SON (K123del)	Microsatellite (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 2709170	NM_138927.4(SON):c.359A>G (p.Lys120Arg)	SON (K120R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1715865	NM_138927.4(SON):c.368A>G (p.Lys123Arg)	SON (K123R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 986024	NM_138927.4(SON):c.384dup (p.Tyr129fs)	SON (Y129fs)	Duplication (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 1934471	NM_138927.4(SON):c.377A>G (p.Glu126Gly)	SON (E126G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 631519	NM_138927.4(SON):c.384del (p.Lys128fs)	SON (K128fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 1898521	NM_138927.4(SON):c.383A>T (p.Lys128Ile)	SON (K128I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2792639	NM_138927.4(SON):c.384A>G (p.Lys128=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1699617	NM_138927.4(SON):c.394C>T (p.Gln132Ter)	SON (Q132*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1449000	NM_138927.4(SON):c.401A>G (p.Glu134Gly)	SON (E134G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 489105	NM_138927.4(SON):c.403G>T (p.Glu135Ter)	SON (E135*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2875525	NM_138927.4(SON):c.405A>C (p.Glu135Asp)	SON (E135D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1908491	NM_138927.4(SON):c.405A>G (p.Glu135=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 504111	NM_138927.4(SON):c.416_417insT (p.Lys139fs)	SON (K139fs)	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2165505	NM_138927.4(SON):c.419C>T (p.Thr140Met)	SON (T140M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3022445	NM_138927.4(SON):c.420G>A (p.Thr140=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2989213	NM_138927.4(SON):c.430G>T (p.Asp144Tyr)	SON (D144Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2971923	NM_138927.4(SON):c.441C>T (p.Asn147=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2885040	NM_138927.4(SON):c.442A>G (p.Ile148Val)	SON (I148V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1987571	NM_138927.4(SON):c.448T>C (p.Leu150=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1715825	NM_138927.4(SON):c.451G>C (p.Glu151Gln)	SON (E151Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3024975	NM_138927.4(SON):c.461C>T (p.Ser154Phe)	SON (S154F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2712383	NM_138927.4(SON):c.476A>C (p.Asp159Ala)	SON (D159A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1673658	NM_138927.4(SON):c.486T>C (p.Pro162=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3010126	NM_138927.4(SON):c.490G>C (p.Ala164Pro)	SON (A164P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 873535	NM_138927.4(SON):c.490G>A (p.Ala164Thr)	SON (A164T)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 732185	NM_138927.4(SON):c.497C>T (p.Ala166Val)	SON (A166V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2074872	NM_138927.4(SON):c.498G>A (p.Ala166=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 737856	NM_138927.4(SON):c.498G>T (p.Ala166=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2116587	NM_138927.4(SON):c.499C>T (p.Leu167=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1924980	NM_138927.4(SON):c.499C>A (p.Leu167Met)	SON (L167M)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2131212	NM_138927.4(SON):c.517G>A (p.Ala173Thr)	SON (A173T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343051	NM_138927.4(SON):c.518C>T (p.Ala173Val)	SON (A173V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2085559	NM_138927.4(SON):c.519A>T (p.Ala173=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2102702	NM_138927.4(SON):c.524G>T (p.Gly175Val)	SON (G175V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 741938	NM_138927.4(SON):c.539A>G (p.Asn180Ser)	SON (N180S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1359505	NM_138927.4(SON):c.551C>T (p.Ala184Val)	SON (A184V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1569319	NM_138927.4(SON):c.558G>C (p.Val186=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 432665	NM_138927.4(SON):c.563A>G (p.Glu188Gly)	SON (E188G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1604817	NM_138927.4(SON):c.576A>G (p.Val192=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2708811	NM_138927.4(SON):c.580A>T (p.Met194Leu)	SON (M194L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1599972	NM_138927.4(SON):c.580A>G (p.Met194Val)	SON (M194V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GBenign/Likely benign

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