29929[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 676676	NM_013339.4(ALG6):c.-235_-217dup	ALG6, LOC129930665	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 297841	NM_013339.4(ALG6):c.-221C>G	ALG6, LOC129930665	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874447	NM_013339.4(ALG6):c.-208+10T>C	ALG6, LOC129930665	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1230123	NM_013339.4(ALG6):c.-208+78C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269353	NM_013339.4(ALG6):c.-208+92G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326126	NM_013339.4(ALG6):c.-208+115C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242754	NM_013339.4(ALG6):c.-208+216G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321672	NM_013339.4(ALG6):c.-207-97T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508965	NM_013339.4(ALG6):c.-207-9dup	ALG6	Duplication (intron variant)	not specified	GLikely benign
Select item 297842	NM_013339.4(ALG6):c.-207-12T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 510668	NM_013339.4(ALG6):c.-196A>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 874448	NM_013339.4(ALG6):c.-141A>G	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297843	NM_013339.4(ALG6):c.-136C>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297844	NM_013339.4(ALG6):c.-128C>T	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875355	NM_013339.4(ALG6):c.-121T>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875356	NM_013339.4(ALG6):c.-120C>T	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 554144	NM_013339.4(ALG6):c.1A>G (p.Met1Val)	ALG6 (M1V)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 558047	NM_013339.4(ALG6):c.2T>C (p.Met1Thr)	ALG6 (M1T)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2149219	NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)	ALG6 (E2K)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2160933	NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)	ALG6 (E2D)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1104318	NM_013339.4(ALG6):c.9A>G (p.Lys3=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2861045	NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)	ALG6 (W4*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 1568952	NM_013339.4(ALG6):c.15C>T (p.Tyr5=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1139744	NM_013339.4(ALG6):c.16T>C (p.Leu6=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2139834	NM_013339.4(ALG6):c.19A>G (p.Met7Val)	ALG6 (M7V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1915590	NM_013339.4(ALG6):c.20T>C (p.Met7Thr)	ALG6 (M7T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1716695	NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)	ALG6 (T8R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1543213	NM_013339.4(ALG6):c.24A>C (p.Thr8=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1352826	NM_013339.4(ALG6):c.26T>C (p.Val9Ala)	ALG6 (V9A)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2781818	NM_013339.4(ALG6):c.27A>C (p.Val9=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1030279	NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)	ALG6 (L12F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 854201	NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)	ALG6 (I13L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2064793	NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)	ALG6 (L15Q)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1613402	NM_013339.4(ALG6):c.51A>C (p.Val17=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 555747	NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	ALG6 (R18*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 552732	NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	ALG6 (R18Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 755501	NM_013339.4(ALG6):c.54A>G (p.Arg18=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2675652	NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)	ALG6 (W19*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2992261	NM_013339.4(ALG6):c.60A>G (p.Thr20=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2748343	NM_013339.4(ALG6):c.63G>A (p.Val21=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1587185	NM_013339.4(ALG6):c.63G>T (p.Val21=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 555062	NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)	ALG6 (L23fs)	Insertion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 558193	NM_013339.4(ALG6):c.82_82+8del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2081106	NM_013339.4(ALG6):c.82+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1091981	NM_013339.4(ALG6):c.82+7C>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1969038	NM_013339.4(ALG6):c.82+8A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2008741	NM_013339.4(ALG6):c.82+9T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2718178	NM_013339.4(ALG6):c.82+12T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2865366	NM_013339.4(ALG6):c.82+13T>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2887267	NM_013339.4(ALG6):c.82+17G>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2992772	NM_013339.4(ALG6):c.82+18G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1622364	NM_013339.4(ALG6):c.82+19T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1250524	NM_013339.4(ALG6):c.82+76A>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292514	NM_013339.4(ALG6):c.82+89T>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2862454	NM_013339.4(ALG6):c.83-20C>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2017694	NM_013339.4(ALG6):c.83-9T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2062880	NM_013339.4(ALG6):c.83-8G>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1144466	NM_013339.4(ALG6):c.87T>C (p.Ala29=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1102517	NM_013339.4(ALG6):c.90T>C (p.Gly30=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1493494	NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)	ALG6 (P32L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 990161	NM_013339.4(ALG6):c.96G>A (p.Pro32=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2045342	NM_013339.4(ALG6):c.100_101del (p.Met34fs)	ALG6 (M34fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2144087	NM_013339.4(ALG6):c.100A>G (p.Met34Val)	ALG6 (M34V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1423806	NM_013339.4(ALG6):c.100A>C (p.Met34Leu)	ALG6 (M34L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875357	NM_013339.4(ALG6):c.101T>C (p.Met34Thr)	ALG6 (M34T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 1690669	NM_013339.4(ALG6):c.103T>A (p.Phe35Ile)	ALG6 (F35I)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2202539	NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)	ALG6 (F35S)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2701240	NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)	ALG6 (G36D)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2675662	NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)	ALG6 (Y38*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 1457885	NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)	ALG6 (Q41*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2998678	NM_013339.4(ALG6):c.123G>A (p.Gln41=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 95527	NM_013339.4(ALG6):c.127C>A (p.His43Asn)	ALG6 (H43N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584192	NM_013339.4(ALG6):c.129C>T (p.His43=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 1494623	NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)	ALG6 (W44R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2174318	NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)	ALG6 (E46G)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 3020609	NM_013339.4(ALG6):c.138A>G (p.Glu46=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2981930	NM_013339.4(ALG6):c.144T>A (p.Thr48=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2748650	NM_013339.4(ALG6):c.147del (p.Phe49fs)	ALG6 (F49fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 651010	NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	ALG6	Deletion (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 1152492	NM_013339.4(ALG6):c.150T>C (p.Asn50=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2160776	NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)	ALG6 (L51I)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 2011125	NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)	ALG6 (P52S)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875358	NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)	ALG6 (P52L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297845	NM_013339.4(ALG6):c.156G>A (p.Pro52=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 5499	NM_013339.4(ALG6):c.167+5G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 2865910	NM_013339.4(ALG6):c.167+7del	ALG6	Deletion (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 297846	NM_013339.4(ALG6):c.167+7T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 1114133	NM_013339.4(ALG6):c.167+8A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 2833916	NM_013339.4(ALG6):c.167+14A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign

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