Related gene-specific medical variations for Gene (Select 126860473) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352523	NM_177531.6(PKHD1L1):c.12330+2T>A	LOC126860473, PKHD1L1	Single nucleotide variant (splice donor variant)	PKHD1L1-related disorder	GUncertain significance
Select item 3307035	NM_177531.6(PKHD1L1):c.12299A>G (p.Gln4100Arg)	LOC126860473, PKHD1L1 (Q4100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307015	NM_177531.6(PKHD1L1):c.12308C>T (p.Ser4103Leu)	LOC126860473, PKHD1L1 (S4103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213788	NM_177531.6(PKHD1L1):c.12340G>T (p.Val4114Leu)	LOC126860473, PKHD1L1 (V4114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213787	NM_177531.6(PKHD1L1):c.12338G>C (p.Cys4113Ser)	LOC126860473, PKHD1L1 (C4113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213786	NM_177531.6(PKHD1L1):c.12220G>A (p.Val4074Ile)	LOC126860473, PKHD1L1 (V4074I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658752	NM_177531.6(PKHD1L1):c.12330+1G>A	LOC126860473, PKHD1L1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2613843	NM_177531.6(PKHD1L1):c.12403G>C (p.Val4135Leu)	LOC126860473, PKHD1L1 (V4135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481218	NM_177531.6(PKHD1L1):c.12104G>A (p.Ser4035Asn)	LOC126860473, PKHD1L1 (S4035N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378613	NM_177531.6(PKHD1L1):c.12200T>G (p.Val4067Gly)	LOC126860473, PKHD1L1 (V4067G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327246	NM_177531.6(PKHD1L1):c.12350G>T (p.Gly4117Val)	LOC126860473, PKHD1L1 (G4117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234313	NM_177531.6(PKHD1L1):c.12140T>A (p.Ile4047Asn)	LOC126860473, PKHD1L1 (I4047N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance