C0017922[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1095	NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	AGL (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195097	NM_000642.3(AGL):c.18_19del (p.Gln6fs)	AGL (Q6fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188818	NM_000642.3(AGL):c.94C>T (p.Gln32Ter)	AGL (Q32* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188743	NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	AGL (R34* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 256718	NM_000642.3(AGL):c.112A>G (p.Thr38Ala)	AGL (T38A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 189045	NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	AGL (Q40* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 940640	NM_000642.3(AGL):c.214_215del (p.Glu72fs)	AGL (E56fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 196286	NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	AGL (Q86* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IIIa +2 more	GPathogenic/Likely pathogenic
Select item 371401	NM_000642.3(AGL):c.276del (p.Gln92fs)	AGL (Q92fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 370565	NM_000642.3(AGL):c.293+1del	AGL	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 576547	NM_000642.3(AGL):c.341G>A (p.Arg114His)	AGL (R114H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 861380	NM_000642.3(AGL):c.413G>A (p.Gly138Glu)	AGL (G138E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 197686	NM_000642.3(AGL):c.535_538del (p.Leu179fs)	AGL (L163fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 1365212	NM_000642.3(AGL):c.613A>T (p.Lys205Ter)	AGL (K205* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 188994	NM_000642.3(AGL):c.664+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease IIIa +1 more	GPathogenic/Likely pathogenic
Select item 370509	NM_000642.3(AGL):c.753_756del (p.Asp251fs)	AGL (D235fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 550128	NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	AGL (R285* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 256752	NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG	AGL	Microsatellite (splice acceptor variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 256751	NM_000642.3(AGL):c.959-18G>A	AGL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1027598	NM_000642.3(AGL):c.1020del (p.Glu340fs)	AGL (E324fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 429532	NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)	AGL (R343W +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1106	NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	AGL (R408* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IIIa +2 more	GPathogenic
Select item 189080	NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)	AGL	Deletion (nonsense +1 more)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 633032	NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)	AGL (R469* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +2 more	GPathogenic/Likely pathogenic
Select item 568403	NM_000642.3(AGL):c.1423+3A>G	AGL	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 526564	NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	AGL (Y479* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 844261	NM_000642.3(AGL):c.1571G>A (p.Arg524His)	AGL (R508H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1100	NM_000642.3(AGL):c.1735+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 650313	NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)	AGL (R579* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 1096	NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	AGL (W680* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 856946	NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	AGL (Q703* +4 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 188804	NM_000642.3(AGL):c.2309-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IIIa +1 more	GPathogenic/Likely pathogenic
Select item 1177263	NM_000642.3(AGL):c.2433+1G>A	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 21215	NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	AGL (R864* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 371344	NM_000642.3(AGL):c.2681+1G>T	AGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease type III	GPathogenic
Select item 281229	NM_000642.3(AGL):c.2681+1G>A	AGL	Single nucleotide variant (splice donor variant)	AGL-related condition +2 more	GPathogenic
Select item 256729	NM_000642.3(AGL):c.2802A>C (p.Ala934=)	AGL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 370992	NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)	AGL (R977* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1696151	NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)	AGL (D1049E +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 432008	NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	AGL (E1056fs +1 more)	Microsatellite (frameshift variant)	Glycogen storage disease IIIa +2 more	GPathogenic
Select item 655389	NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)	AGL (Y1148* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic
Select item 370894	NM_000642.3(AGL):c.3554del (p.Thr1185fs)	AGL (T1185fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 456491	NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)	AGL (M1212T +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 21216	NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	AGL (R1228* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 582067	NM_000642.3(AGL):c.3836+3A>G	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 370832	NM_000642.3(AGL):c.3911dup (p.Asn1304fs)	AGL (N1304fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 1103	NM_000642.3(AGL):c.3965del (p.Val1322fs)	AGL (V1306fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1108	NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	AGL (W1327* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 456499	NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)	AGL (E1343K +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 189052	NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	AGL (L1392fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 633033	NM_000642.3(AGL):c.4221del (p.Lys1407fs)	AGL (K1391fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 1878424	NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)	AGL (L1401S +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1099	NM_000642.3(AGL):c.4260-12A>G	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371085	NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)	AGL (G1426fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929046	NM_000642.3(AGL):c.4422del (p.Ala1475fs)	AGL (A1459fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease type III	GPathogenic/Likely pathogenic
Select item 456508	NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	AGL (R1487* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III +1 more	GPathogenic/Likely pathogenic
Select item 1094	NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	AGL (Y1510* +1 more)	Duplication (nonsense +1 more)	Glycogen storage disease IIIa +2 more	GPathogenic/Likely pathogenic

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Items: 57