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

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Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 1250174	NM_001102469.2(LIPN):c.-8-308T>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228278	NM_001102469.2(LIPN):c.108+206CTAT[12]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1277287	NM_001102469.2(LIPN):c.108+206CTAT[9]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1246521	NM_001102469.2(LIPN):c.108+206CTAT[10]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1242496	NM_001102469.2(LIPN):c.108+206CTAT[8]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1242906	NM_001102469.2(LIPN):c.108+250_108+257del	LIPN	Deletion (intron variant)	not provided	GBenign
Select item 1264290	NM_001102469.2(LIPN):c.108+250_108+253del	LIPN	Deletion (intron variant)	not provided	GBenign
Select item 1220835	NM_001102469.2(LIPN):c.108+250G>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238416	NM_001102469.2(LIPN):c.108+267TATC[3]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1264185	NM_001102469.2(LIPN):c.109-329G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232951	NM_001102469.2(LIPN):c.226+120T>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315269	NM_001102469.2(LIPN):c.293A>T (p.Tyr98Phe)	LIPN (Y98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238700	NM_001102469.2(LIPN):c.297T>C (p.Ala99=)	LIPN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2527562	NM_001102469.2(LIPN):c.335A>T (p.Tyr112Phe)	LIPN (Y112F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1252290	NM_001102469.2(LIPN):c.425+47A>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231531	NM_001102469.2(LIPN):c.425+91G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257628	NM_001102469.2(LIPN):c.425+178G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237416	NM_001102469.2(LIPN):c.426-234C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232479	NM_001102469.2(LIPN):c.535+210T>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282002	NM_001102469.2(LIPN):c.535+244C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276467	NM_001102469.2(LIPN):c.536-50C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263602	NM_001102469.2(LIPN):c.672+307G>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505726	NM_001102469.2(LIPN):c.683G>C (p.Gly228Ala)	LIPN (G228A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270910	NM_001102469.2(LIPN):c.731C>A (p.Thr244Asn)	LIPN (T244N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 8 +1 more	GBenign
Select item 1237324	NM_001102469.2(LIPN):c.819+182C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235164	NM_001102469.2(LIPN):c.820-145A>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269347	NM_001102469.2(LIPN):c.820-95G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259527	NM_001102469.2(LIPN):c.892-151G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267373	NM_001102469.2(LIPN):c.892-90G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273885	NM_001102469.2(LIPN):c.892-62T>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250088	NM_001102469.2(LIPN):c.892-35C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247982	NM_001102469.2(LIPN):c.936C>T (p.Asp312=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1262091	NM_001102469.2(LIPN):c.963+48A>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260491	NM_001102469.2(LIPN):c.963+120T>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233148	NM_001102469.2(LIPN):c.964-34C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774557	NM_001102469.2(LIPN):c.1062G>C (p.Arg354Ser)	LIPN (R354S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263873	NM_001102469.2(LIPN):c.1140C>T (p.Leu380=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242299	NM_001102469.2(LIPN):c.*21A>G	LIPN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 39