18294[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 146375	GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3	ALG1, C16orf89 +29 more	Copy number gain	See cases	GLikely benign
Select item 155214	GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1	ALG1, C16orf89 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1294322	NC_000016.10:g.5071691C>A	ALG1	Single nucleotide variant	not provided	GBenign
Select item 384198	NM_019109.4(ALG1):c.-10G>T	ALG1	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 1651814	NM_019109.5(ALG1):c.6G>T (p.Ala2=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2270042	NM_019109.5(ALG1):c.7G>A (p.Ala3Thr)	ALG1 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1669865	NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)	ALG1 (A3D)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 2789265	NM_019109.5(ALG1):c.9C>T (p.Ala3=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2816962	NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)	ALG1 (S4L)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2816535	NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)	ALG1 (S4*)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 2972144	NM_019109.5(ALG1):c.12A>G (p.Ser4=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2754699	NM_019109.5(ALG1):c.12A>T (p.Ser4=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2149223	NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)	ALG1 (C5G)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1365575	NM_019109.5(ALG1):c.13T>C (p.Cys5Arg)	ALG1 (C5R)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1930528	NM_019109.5(ALG1):c.15C>T (p.Cys5=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 193419	NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)	ALG1 (C5*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2882851	NM_019109.5(ALG1):c.16T>C (p.Leu6=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1574853	NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)	ALG1 (L6F)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1896156	NM_019109.5(ALG1):c.19G>C (p.Val7Leu)	ALG1 (V7L)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 193422	NM_019109.5(ALG1):c.19G>A (p.Val7Ile)	ALG1 (V7I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1047043	NM_019109.5(ALG1):c.20T>G (p.Val7Gly)	ALG1 (V7G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2900435	NM_019109.5(ALG1):c.21C>G (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2173727	NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)	ALG1	Duplication (inframe_insertion)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 702826	NM_019109.5(ALG1):c.21C>T (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 790875	NM_019109.5(ALG1):c.22C>T (p.Leu8=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 2417000	NM_019109.5(ALG1):c.25C>G (p.Leu9Val)	ALG1, LOC130058383 (L9V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1577323	NM_019109.5(ALG1):c.25C>T (p.Leu9=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2920388	NM_019109.5(ALG1):c.27G>A (p.Leu9=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2799025	NM_019109.5(ALG1):c.27G>C (p.Leu9=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1949682	NM_019109.5(ALG1):c.27G>T (p.Leu9=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 803207	NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)	ALG1, LOC130058383	Duplication (inframe_insertion)	ALG1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1448056	NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)	ALG1, LOC130058383 (A10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593009	NM_019109.5(ALG1):c.29C>T (p.Ala10Val)	ALG1, LOC130058383 (A10V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2915044	NM_019109.5(ALG1):c.30G>C (p.Ala10=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2764582	NM_019109.5(ALG1):c.30G>A (p.Ala10=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1931789	NM_019109.5(ALG1):c.30G>T (p.Ala10=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2072701	NM_019109.5(ALG1):c.31C>T (p.Leu11=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2712667	NM_019109.5(ALG1):c.33G>T (p.Leu11=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2117349	NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)	ALG1, LOC130058383	Insertion (inframe_insertion)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1469223	NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup)	ALG1, LOC130058383	Duplication (inframe_insertion)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 510977	NM_019109.4(ALG1):c.36T>C (p.Cys12=)	LOC130058383, ALG1	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 1408336	NM_019109.5(ALG1):c.37C>G (p.Leu13Val)	ALG1, LOC130058383 (L13V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1663777	NM_019109.5(ALG1):c.39G>A (p.Leu13=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1654414	NM_019109.5(ALG1):c.39G>C (p.Leu13=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2871559	NM_019109.5(ALG1):c.40C>T (p.Leu14=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2713371	NM_019109.5(ALG1):c.42G>T (p.Leu14=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2887337	NM_019109.5(ALG1):c.43C>T (p.Leu15=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1423129	NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)	ALG1, LOC130058383	Microsatellite (inframe_insertion)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2793811	NM_019109.5(ALG1):c.49C>T (p.Leu17=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1930741	NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)	ALG1, LOC130058383 (L18P)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1911750	NM_019109.5(ALG1):c.54G>A (p.Leu18=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2956035	NM_019109.5(ALG1):c.55C>T (p.Leu19=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 385000	NC_000016.10:g.5071909G>A	ALG1, LOC130058383	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 2810390	NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)	ALG1, LOC130058383 (G21*)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 1050628	NM_019109.5(ALG1):c.64G>A (p.Gly22Arg)	ALG1, LOC130058383 (G22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373810	NM_019109.5(ALG1):c.69del (p.Gly22_Trp23insTer)	ALG1, LOC130058383	Deletion (nonsense)	not provided	GPathogenic
Select item 1470527	NM_019109.5(ALG1):c.70A>G (p.Lys24Glu)	ALG1, LOC130058383 (K24E)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1429548	NM_019109.5(ALG1):c.73C>T (p.Arg25Cys)	ALG1, LOC130058383 (R25C)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 756470	NM_019109.5(ALG1):c.75C>G (p.Arg25=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1906873	NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)	ALG1, LOC130058383 (R28P)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 975486	NM_019109.5(ALG1):c.83G>A (p.Arg28Gln)	ALG1, LOC130058383 (R28Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2748116	NM_019109.5(ALG1):c.87_91del (p.Arg30fs)	ALG1 (R30fs)	Deletion (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 735784	NM_019109.5(ALG1):c.87G>T (p.Gly29=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1926847	NM_019109.5(ALG1):c.88C>A (p.Arg30=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3016188	NM_019109.5(ALG1):c.91del (p.Ala31fs)	ALG1 (A31fs)	Deletion (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 510533	NM_019109.4(ALG1):c.93G>A (p.Ala31=)	ALG1	Single nucleotide variant	not specified	GLikely benign
Select item 969780	NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)	ALG1 (A32D)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2706067	NM_019109.5(ALG1):c.96C>G (p.Ala32=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1952681	NM_019109.5(ALG1):c.96C>A (p.Ala32=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2805155	NM_019109.5(ALG1):c.97C>A (p.Arg33=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2163246	NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)	ALG1 (R33W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2807575	NM_019109.5(ALG1):c.102T>C (p.His34=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 281338	NM_019109.5(ALG1):c.115del (p.Val39fs)	ALG1, LOC130058384 (V39fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1391017	NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)	ALG1, LOC130058384 (L40P)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2842288	NM_019109.5(ALG1):c.120G>C (p.Leu40=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1028632	NM_019109.5(ALG1):c.121G>A (p.Gly41Ser)	ALG1, LOC130058384 (G41S)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2900453	NM_019109.5(ALG1):c.123C>T (p.Gly41=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2122767	NM_019109.5(ALG1):c.123C>G (p.Gly41=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1663933	NM_019109.5(ALG1):c.126C>T (p.Asp42=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1695426	NM_019109.5(ALG1):c.131G>T (p.Gly44Val)	ALG1, LOC130058384 (G44V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2064306	NM_019109.5(ALG1):c.132C>T (p.Gly44=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1628559	NM_019109.5(ALG1):c.135C>T (p.Arg45=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1663780	NM_019109.5(ALG1):c.138C>T (p.Ser46=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 471232	NC_000016.10:g.5071991C>T	ALG1, LOC130058384	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 193418	NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)	ALG1, LOC130058384	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1551619	NM_019109.5(ALG1):c.150G>A (p.Gln50=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2811770	NM_019109.5(ALG1):c.156C>T (p.His52=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1660133	NM_019109.5(ALG1):c.159G>C (p.Ala53=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2977188	NM_019109.5(ALG1):c.160C>T (p.Leu54=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1365724	NM_019109.5(ALG1):c.160C>G (p.Leu54Val)	ALG1, LOC130058384 (L54V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1572656	NM_019109.5(ALG1):c.162G>T (p.Leu54=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3006822	NM_019109.5(ALG1):c.164dup (p.Leu56fs)	ALG1, LOC130058384 (L56fs)	Duplication (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 1626530	NM_019109.5(ALG1):c.165G>C (p.Ser55=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2014599	NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)	ALG1, LOC130058384 (A57S)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance

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