"PreventionGenetics, part of Exact Sciences"[submitter] AND "PYGM"[gen - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878937	NM_005609.4(PYGM):c.2322C>T (p.Val774=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259834	NM_005609.4(PYGM):c.2313-47T>C	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 305269	NM_005609.4(PYGM):c.2268C>T (p.Pro756=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GConflicting classifications of pathogenicity
Select item 1613497	NM_005609.4(PYGM):c.2085G>A (p.Gly695=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +1 more	GLikely benign
Select item 2306	NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	PYGM (G598R +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +2 more	GPathogenic/Likely pathogenic
Select item 194748	NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	PYGM (A670V +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +3 more	GBenign/Likely benign
Select item 1127536	NM_005609.4(PYGM):c.1881C>T (p.Ile627=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259833	NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)	PYGM (V624I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95294	NM_005609.4(PYGM):c.1827+7A>G	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 592764	NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	PYGM (R602Q +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +3 more	GConflicting classifications of pathogenicity
Select item 382747	NM_005609.4(PYGM):c.1692C>T (p.Phe564=)	PYGM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 259832	NM_005609.4(PYGM):c.1621-19del	PYGM	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 95293	NM_005609.4(PYGM):c.1569C>G (p.Leu523=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 194233	NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	PYGM (I513V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 386091	NM_005609.4(PYGM):c.1527G>T (p.Gly509=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +2 more	GBenign/Likely benign
Select item 95292	NM_005609.4(PYGM):c.1494C>T (p.Pro498=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2637160	NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)	PYGM (R402W +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259830	NM_005609.4(PYGM):c.1403+49C>A	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 305271	NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)	PYGM (I447L +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +2 more	GLikely benign
Select item 95289	NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)	PYGM (R414G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 193681	NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)	PYGM (N413Y +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition +2 more	GConflicting classifications of pathogenicity
Select item 193682	NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)	PYGM (T395M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 430154	NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	PYGM (E383K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 259829	NM_005609.4(PYGM):c.1092+6dup	PYGM	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 285213	NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +3 more	GConflicting classifications of pathogenicity
Select item 711512	NM_005609.4(PYGM):c.999+9C>T	PYGM	Single nucleotide variant (intron variant)	PYGM-related condition +1 more	GLikely benign
Select item 1139399	NM_005609.4(PYGM):c.963T>C (p.Asp321=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +1 more	GLikely benign
Select item 198831	NM_005609.4(PYGM):c.924C>T (p.Ile308=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 167552	NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	PYGM (N283S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95300	NM_005609.4(PYGM):c.661-5C>G	PYGM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 990054	NM_005609.4(PYGM):c.661-599G>T	PYGM	Single nucleotide variant (intron variant)	PYGM-related condition	GLikely benign
Select item 259840	NM_005609.4(PYGM):c.660+35G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V +2 more	GBenign
Select item 197777	NM_005609.4(PYGM):c.660G>A (p.Gln220=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 259839	NM_005609.4(PYGM):c.612C>T (p.Tyr204=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2631379	NM_005609.4(PYGM):c.604C>T (p.His202Tyr)	PYGM (H114Y +1 more)	Single nucleotide variant (missense variant)	PYGM-related condition	GUncertain significance
Select item 95298	NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)	PYGM (A193S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259838	NM_005609.4(PYGM):c.540C>T (p.Ala180=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 259837	NM_005609.4(PYGM):c.516C>T (p.Ser172=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 259836	NM_005609.4(PYGM):c.425-22C>T	PYGM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 305283	NM_005609.4(PYGM):c.330C>T (p.Asp110=)	PYGM	Single nucleotide variant (synonymous variant +1 more)	PYGM-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259835	NM_005609.4(PYGM):c.243+48A>G	PYGM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 722801	NM_005609.4(PYGM):c.72C>T (p.Asn24=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +1 more	GLikely benign
Select item 1590484	NM_005609.4(PYGM):c.31A>C (p.Arg11=)	PYGM	Single nucleotide variant (synonymous variant)	PYGM-related condition +1 more	GLikely benign
Select item 259831	NM_005609.4(PYGM):c.15G>C (p.Leu5=)	PYGM	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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Items: 44