"GeneDx"[submitter] AND "PDSS2"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 1293935	NM_020381.4(PDSS2):c.*311G>A	PDSS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 354766	NM_020381.4(PDSS2):c.*1C>T	PDSS2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1254268	NM_020381.4(PDSS2):c.1194T>G (p.Phe398Leu)	PDSS2 (F398L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261251	NM_020381.4(PDSS2):c.1149G>A (p.Glu383=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 515351	NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 214989	NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	PDSS2 (R349Q)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 383027	NM_020381.4(PDSS2):c.1042-19T>C	PDSS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 671542	NM_020381.4(PDSS2):c.1042-237A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201882	NM_020381.4(PDSS2):c.1041+175_1041+178del	PDSS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 378357	NM_020381.4(PDSS2):c.1009-14C>G	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GBenign/Likely benign
Select item 512931	NM_020381.4(PDSS2):c.1009-15C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1189745	NM_020381.4(PDSS2):c.1009-28_1009-25del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 3378292	NM_020381.4(PDSS2):c.973C>T (p.Leu325Phe)	PDSS2 (L325F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382475	NM_020381.4(PDSS2):c.915C>T (p.Thr305=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214994	NM_020381.4(PDSS2):c.877-2A>G	PDSS2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 516466	NM_020381.4(PDSS2):c.877-20C>T	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GLikely benign
Select item 1282627	NM_020381.4(PDSS2):c.877-40A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212048	NM_020381.4(PDSS2):c.877-86G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288475	NM_020381.4(PDSS2):c.877-294_877-293dup	PDSS2	Duplication (intron variant)	not provided	GBenign
Select item 1186595	NM_020381.4(PDSS2):c.877-294_877-292dup	PDSS2	Duplication (intron variant)	not provided	GLikely benign
Select item 671540	NM_020381.4(PDSS2):c.877-294dup	PDSS2	Duplication (intron variant)	not provided	GBenign
Select item 683453	NM_020381.4(PDSS2):c.876+153A>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671641	NM_020381.4(PDSS2):c.876+48C>T	PDSS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 214995	NM_020381.4(PDSS2):c.874A>G (p.Lys292Glu)	PDSS2 (K292E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 378356	NM_020381.4(PDSS2):c.703-14T>C	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 673752	NM_020381.4(PDSS2):c.703-305G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214988	NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)	PDSS2 (K234E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 508410	NM_020381.4(PDSS2):c.678A>G (p.Val226=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214987	NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)	PDSS2 (V223I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1286428	NM_020381.4(PDSS2):c.631-123T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673512	NM_020381.4(PDSS2):c.630+234_630+251del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1181484	NM_020381.4(PDSS2):c.630+146A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261253	NM_020381.4(PDSS2):c.552A>C (p.Gly184=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 214993	NM_020381.4(PDSS2):c.536A>C (p.Lys179Thr)	PDSS2 (K179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579862	NM_020381.4(PDSS2):c.487C>T (p.Arg163Cys)	PDSS2 (R163C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293080	NM_020381.4(PDSS2):c.456G>A (p.Thr152=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1198058	NM_020381.4(PDSS2):c.432-46A>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683452	NM_020381.4(PDSS2):c.431+283T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265087	NM_020381.4(PDSS2):c.431+44T>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138688	NM_020381.4(PDSS2):c.431+17C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2507352	NM_020381.4(PDSS2):c.380G>A (p.Ser127Asn)	PDSS2 (S127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214992	NM_020381.4(PDSS2):c.368C>T (p.Ala123Val)	PDSS2 (A123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196642	NM_020381.4(PDSS2):c.297-189C>T	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233841	NM_020381.4(PDSS2):c.297-224AAC[8]	PDSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1226680	NM_020381.4(PDSS2):c.297-224AAC[9]	PDSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1182156	NM_020381.4(PDSS2):c.297-224AAC[6]	PDSS2	Microsatellite (intron variant)	not provided	GBenign
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 214991	NM_020381.4(PDSS2):c.275A>C (p.His92Pro)	PDSS2 (H92P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2505025	NM_020381.4(PDSS2):c.262G>T (p.Val88Leu)	PDSS2 (V88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2497848	NM_020381.4(PDSS2):c.163G>C (p.Glu55Gln)	PDSS2 (E55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507812	NM_020381.4(PDSS2):c.81G>A (p.Pro27=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 214990	NM_020381.4(PDSS2):c.79C>T (p.Pro27Ser)	PDSS2 (P27S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138690	NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro)	PDSS2 (R4P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 138689	NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu)	PDSS2 (F3L)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign
Select item 729152	NM_020381.4(PDSS2):c.4A>C (p.Asn2His)	PDSS2 (N2H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 507867	NM_020381.4(PDSS2):c.-30C>T	PDSS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1230287	NC_000006.12:g.107459619T>C	PDSS2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1180886	NC_000006.12:g.107459724T>C	PDSS2	Single nucleotide variant	not provided	GLikely benign
Select item 674100	NM_020381.3(PDSS2):c.-539C>T	PDSS2	Single nucleotide variant	not provided	GLikely benign

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Items: 60