C3887964[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1644852	NM_198334.3(GANAB):c.2512-13A>G	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GLikely benign
Select item 253132	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB (R839W +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GLikely pathogenic
Select item 1547834	NM_198334.3(GANAB):c.2343C>T (p.Ser781=)	GANAB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1678452	NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu)	GANAB (D537E +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1333062	NM_198334.3(GANAB):c.2253G>A (p.Ala751=)	GANAB	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GLikely benign
Select item 1313542	NM_198334.3(GANAB):c.2177T>C (p.Met726Thr)	GANAB (M485T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 972836	NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln)	GANAB (R584Q +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1300965	NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln)	GANAB (R433Q +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 253129	NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)	GANAB (D377fs +5 more)	Deletion (frameshift variant)	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 797837	NM_198334.3(GANAB):c.1594-9C>T	GANAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1596421	NM_198334.3(GANAB):c.1386+18C>T	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 972833	NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr)	GANAB (S289T +5 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1321614	NM_198334.3(GANAB):c.926G>A (p.Arg309His)	GANAB (R195H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1671919	NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)	GANAB (P193R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 780995	NM_198334.3(GANAB):c.714G>A (p.Pro238=)	GANAB	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 1049962	NM_198334.3(GANAB):c.560+469C>T	GANAB (T195M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1371454	NM_198334.3(GANAB):c.548C>T (p.Ala183Val)	GANAB (A69V +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +2 more	GUncertain significance
Select item 1327722	NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)	GANAB (R164* +2 more)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GPathogenic/Likely pathogenic
Select item 1413869	NM_198334.3(GANAB):c.415G>A (p.Glu139Lys)	GANAB (E139K +2 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GUncertain significance
Select item 1409060	NM_198334.3(GANAB):c.381-10T>C	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GConflicting classifications of pathogenicity
Select item 1254384	NM_198334.3(GANAB):c.380+15A>G	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 1255600	NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)	GANAB (P108L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1479450	NM_198334.3(GANAB):c.253G>A (p.Val85Met)	GANAB (V85M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 253133	NM_198334.3(GANAB):c.152_153del (p.Arg51fs)	GANAB (R51fs)	Microsatellite (5 prime UTR variant +2 more)	GANAB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1598685	NM_198334.3(GANAB):c.38+17C>T	GANAB	Single nucleotide variant (intron variant)	Polycystic kidney disease 3 with or without polycystic liver disease +1 more	GBenign/Likely benign
Select item 8206	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1 (L845S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 562302	NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	PKD1 (L727P)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity

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Items: 27