"Baylor Genetics"[submitter] AND "PKD1L1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027707	NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu)	PKD1L1 (P2813L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 3057623	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	PKD1L1, PKD1L1-AS1 (R2711Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 1027705	NM_138295.5(PKD1L1):c.7294C>T (p.Pro2432Ser)	PKD1L1, PKD1L1-AS1 (P2432S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 235796	NM_138295.5(PKD1L1):c.6473+2_6473+3del	PKD1L1	Deletion (splice donor variant)	Situs inversus +1 more	GPathogenic
Select item 1027704	NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=)	PKD1L1	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 1032411	NM_138295.5(PKD1L1):c.5557C>T (p.Pro1853Ser)	PKD1L1 (P1853S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 1027702	NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr)	PKD1L1 (H1720Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 235198	NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	PKD1L1 (C1691S)	Single nucleotide variant (missense variant)	Situs inversus	GLikely pathogenic
Select item 2582344	NM_138295.5(PKD1L1):c.3994C>T (p.Arg1332Cys)	PKD1L1 (R1332C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2441677	NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)	PKD1L1 (G1273V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 1027701	NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter)	PKD1L1 (Q1201*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1027703	NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr)	PKD1L1 (C193Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance