SON[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066760, LOC130066761 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LINC00322, LINC00323 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC121627924, LOC121627925 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC112694736, LOC112694740 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066614, LOC130066615 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	KRTAP20-4, KRTAP21-1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC101928269, LOC101928398 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC112694754, LOC114004360 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC130066585, LOC130066586 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066852, LOC130066853 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	CLDN17, CLDN8 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC129391229, LOC129391230 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	LOC130066743, LOC130066744 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066805, LOC130066806 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	KRTAP20-4, KRTAP21-1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066836, LOC130066837 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	CBR3, CBR3-AS1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066568, LOC130066569 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066586, LOC130066587 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	LOC126653400, LOC126653401 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	BACH1-IT3, BAGE2 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	KRTAP21-3, KRTAP22-1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	ITGB2, ITGB2-AS1 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 59003	GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3	CRYZL1, DNAJC28 +16 more	Copy number gain	See cases	GUncertain significance
Select item 59012	GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1	CRYZL1, DNAJC28 +15 more	Copy number loss	See cases	GPathogenic
Select item 2672312	NC_000021.9:g.33542069_33544417del	GART, LOC130066566 +2 more	Deletion (genic upstream transcript variant)	Intellectual disability	GLikely pathogenic
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 3686724	NM_138927.4(SON):c.8C>A (p.Thr3Asn)	SON (T3N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3690193	NM_138927.4(SON):c.9C>A (p.Thr3=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3360550	NM_138927.4(SON):c.62A>G (p.Gln21Arg)	SON (Q21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392988	NM_138927.4(SON):c.77+6C>G	SON	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3670765	NM_138927.4(SON):c.77+11C>T	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3694844	NM_138927.4(SON):c.77+19C>T	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3587667	NM_138927.4(SON):c.78-9C>A	SON	Single nucleotide variant (intron variant)	ZTTK syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1722479	NM_138927.4(SON):c.78-9C>T	SON	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2416753	NM_138927.4(SON):c.78-3A>T	SON	Single nucleotide variant (intron variant)	ZTTK syndrome +1 more	GConflicting classifications of pathogenicity
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)	not provided +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 3627555	NM_138927.4(SON):c.142G>C (p.Asp48His)	SON (D48H)	Single nucleotide variant (missense variant +1 more)	not provided	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 3728693	NM_138927.4(SON):c.170C>T (p.Pro57Leu)	SON (P57L)	Single nucleotide variant (missense variant +1 more)	not provided	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 3359572	NM_138927.4(SON):c.185T>C (p.Val62Ala)	SON (V62A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	not provided +1 more	GUncertain significance
Select item 3905647	NM_138927.4(SON):c.198G>A (p.Glu66=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3682930	NM_138927.4(SON):c.245-18_245-15del	SON	Microsatellite (intron variant)	not provided	GLikely benign
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 3694601	NM_138927.4(SON):c.247T>C (p.Leu83=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	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 3710914	NM_138927.4(SON):c.304G>A (p.Glu102Lys)	SON (E102K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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