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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1178066	NM_002582.4(PARN):c.1865-97C>T	PARN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 542670	NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	PARN (K615E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GConflicting classifications of pathogenicity
Select item 436148	NM_002582.4(PARN):c.1741G>A (p.Gly581Arg)	PARN (G581R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1194781	NM_002582.4(PARN):c.1670+246del	PARN	Deletion (intron variant)	not provided	GLikely benign
Select item 1275971	NM_002582.4(PARN):c.1480+29A>G	PARN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226389	NM_002582.4(PARN):c.1406-144G>T	PARN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 476056	NM_002582.4(PARN):c.1383T>C (p.Leu461=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GBenign/Likely benign
Select item 423824	NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)	PARN (R444C +2 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis +3 more	GConflicting classifications of pathogenicity
Select item 1187394	NM_002582.4(PARN):c.1319-297dup	PARN	Duplication (intron variant)	not provided	GLikely benign
Select item 1239184	NM_002582.4(PARN):c.1319-284del	PARN	Deletion (intron variant)	not provided	GBenign
Select item 1187508	NM_002582.4(PARN):c.1318+261A>T	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 658043	NM_002582.4(PARN):c.1297C>G (p.Leu433Val)	PARN (L372V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GUncertain significance
Select item 1238239	NM_002582.4(PARN):c.1263-60G>A	PARN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274904	NM_002582.4(PARN):c.1193-118A>G	PARN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253543	NM_002582.4(PARN):c.1192+95G>C	PARN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 383414	NM_002582.4(PARN):c.1192+4C>T	PARN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1266666	NM_002582.4(PARN):c.1006-77dup	PARN	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1289460	NM_002582.4(PARN):c.963-141del	PARN	Deletion (intron variant)	not provided	GBenign
Select item 1227467	NM_002582.4(PARN):c.918+239T>C	PARN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168455	NM_002582.4(PARN):c.918+14T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GBenign
Select item 2136003	NM_002582.4(PARN):c.859C>T (p.His287Tyr)	PARN (H287Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193235	NM_002582.4(PARN):c.703-160C>T	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210498	NM_002582.4(PARN):c.703-208A>G	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216559	NM_002582.4(PARN):c.703-216C>G	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210865	NM_002582.4(PARN):c.703-223G>A	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276856	NM_002582.4(PARN):c.702+87C>T	PARN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1202769	NM_002582.4(PARN):c.660-256del	PARN	Deletion (intron variant)	not provided	GLikely benign
Select item 190291	NM_002582.4(PARN):c.659+4_659+7del	PARN	Microsatellite (splice donor variant)	not provided +2 more	GUncertain significance
Select item 1211174	NM_002582.4(PARN):c.620+73A>G	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 546356	NM_002582.4(PARN):c.569A>G (p.Asp190Gly)	PARN (D190G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance
Select item 1249873	NM_002582.4(PARN):c.554+155dup	PARN	Duplication (intron variant)	not provided	GBenign
Select item 1223564	NM_002582.4(PARN):c.554+173del	PARN	Deletion (intron variant)	not provided	GLikely benign
Select item 1190812	NM_002582.4(PARN):c.388+186dup	PARN	Duplication (intron variant)	not provided	GLikely benign
Select item 1290214	NM_002582.4(PARN):c.388+206_388+207del	PARN	Deletion (intron variant)	not provided	GBenign
Select item 1258147	NM_002582.4(PARN):c.388+207del	PARN	Deletion (intron variant)	not provided	GBenign
Select item 854744	NM_002582.4(PARN):c.383G>A (p.Arg128Gln)	PARN (R82Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1207844	NM_002582.4(PARN):c.328-138T>C	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 967449	NM_002582.4(PARN):c.299C>A (p.Ser100Tyr)	PARN (S100Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1314573	NM_002582.4(PARN):c.227A>G (p.Tyr76Cys)	PARN (Y15C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 424063	NM_002582.4(PARN):c.176A>G (p.Lys59Arg)	PARN (K59R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 424050	NM_002582.4(PARN):c.172A>T (p.Lys58Ter)	PARN (K58*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1197547	NM_002582.4(PARN):c.20-187C>T	PARN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 834008	NM_002582.4(PARN):c.19A>C (p.Asn7His)	PARN (N7H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance

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Items: 43