"GeneDx"[submitter] AND "NUS1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1678724	NC_000006.12:g.117675239G>A	LOC101927919, NUS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1321498	NC_000006.12:g.117675454A>G	NUS1	Single nucleotide variant	not provided	GLikely benign
Select item 1222681	NC_000006.12:g.117675468T>C	NUS1	Single nucleotide variant	not provided	GBenign
Select item 1706275	NM_138459.5(NUS1):c.-185G>A	NUS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1308590	NM_138459.5(NUS1):c.22_45del (p.Val8_Leu15del)	NUS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3363413	NM_138459.5(NUS1):c.38_46dup (p.Leu15_Leu16insHisAlaLeu)	NUS1	Duplication	not provided	GUncertain significance
Select item 3252203	NM_138459.5(NUS1):c.32T>C (p.Val11Ala)	NUS1 (V11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710687	NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)	NUS1 (C17R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2985751	NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)	NUS1 (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769692	NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)	NUS1 (R66P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GBenign/Likely benign
Select item 817999	NM_138459.5(NUS1):c.218_242del (p.Arg73fs)	NUS1 (R73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1326122	NM_138459.5(NUS1):c.415+203_415+204insG	NUS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1234642	NM_138459.5(NUS1):c.415+208C>T	NUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272570	NM_138459.5(NUS1):c.416-334A>C	NUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274339	NM_138459.5(NUS1):c.416-211C>T	NUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306441	NM_138459.5(NUS1):c.449A>G (p.Asp150Gly)	NUS1 (D150G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269863	NM_138459.5(NUS1):c.542-205A>G	NUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321675	NM_138459.5(NUS1):c.542-73T>C	NUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2505858	NM_138459.5(NUS1):c.560C>T (p.Ala187Val)	NUS1 (A187V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3376086	NM_138459.5(NUS1):c.626A>T (p.Gln209Leu)	NUS1 (Q209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302676	NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)	NUS1 (R217I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1312416	NM_138459.5(NUS1):c.689T>C (p.Leu230Pro)	NUS1 (L230P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303882	NM_138459.5(NUS1):c.691+120G>A	NUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291954	NM_138459.5(NUS1):c.792-258C>T	NUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168377	NM_138459.5(NUS1):c.849A>G (p.Gln283=)	NUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3252470	NM_138459.5(NUS1):c.861_873del (p.Cys287fs)	NUS1 (C287fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1303883	NM_138459.5(NUS1):c.*18A>G	NUS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1695832	NM_138459.5(NUS1):c.*157TG[5]	NUS1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 3361236	NM_138459.5(NUS1):c.616G>A (p.Asp206Asn)	NUS1 (D206N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361042	NM_138459.5(NUS1):c.645A>C (p.Gln215His)	NUS1 (Q215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 31