Related gene-specific medical variations for Gene (Select 152559) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208530	NM_001040202.2(PAQR3):c.82A>G (p.Ile28Val)	LOC129992736, PAQR3 (I28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134524	NM_198892.2(BMP2K):c.2317A>G (p.Asn773Asp)	BMP2K, PAQR3 (N736D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654839	NM_001040202.2(PAQR3):c.90G>A (p.Leu30=)	LOC129992736, PAQR3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2378029	NM_198892.2(BMP2K):c.2024A>G (p.Glu675Gly)	BMP2K, PAQR3 (E675G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276000	NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)	BMP2K, PAQR3 (V931I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236573	NM_198892.2(BMP2K):c.3085T>A (p.Ser1029Thr)	BMP2K, PAQR3 (S1029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226894	NM_198892.2(BMP2K):c.2146C>T (p.Pro716Ser)	BMP2K, PAQR3 (P716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218868	NM_198892.2(BMP2K):c.3481C>T (p.Gln1161Ter)	BMP2K, PAQR3 (Q1161*)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 91926	NM_001040202.2(PAQR3):c.650C>G (p.Pro217Arg)	PAQR3 (P217R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance