Related gene-specific medical variations for Gene (Select 114780) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550458	NM_052892.5(PKD1L2):c.5572G>A (p.Val1858Ile)	LOC112486210, PKD1L2 (V1176I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483046	NM_052892.5(PKD1L2):c.5524C>A (p.Leu1842Met)	LOC112486210, PKD1L2 (L1160M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467978	NM_052892.5(PKD1L2):c.5585A>G (p.Glu1862Gly)	LOC112486210, PKD1L2 (E1180G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405751	NM_052892.5(PKD1L2):c.5522G>A (p.Gly1841Asp)	LOC112486210, PKD1L2 (G1159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278110	NM_052892.5(PKD1L2):c.5538G>T (p.Arg1846Ser)	LOC112486210, PKD1L2 (R1846S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276853	NM_052892.5(PKD1L2):c.5568G>A (p.Met1856Ile)	LOC112486210, PKD1L2 (M1856I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250053	NM_052892.5(PKD1L2):c.5605C>T (p.Pro1869Ser)	LOC112486210, PKD1L2 (P1869S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340898	GRCh37/hg19 16q23.2(chr16:81159405-81243017)x1	PKD1L2	Copy number loss	not provided	GUncertain significance
Select item 149811	GRCh38/hg38 16q23.2(chr16:81153520-81228677)x1	PKD1L2	Copy number loss	See cases	GLikely benign