Related gene-specific medical variations for Gene (Select 84992) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2974851	NM_001042616.3(PIGY):c.108C>G (p.Ser36Arg)	PIGY, PYURF (S36R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2966209	NM_001042616.3(PIGY):c.21G>A (p.Thr7=)	PIGY, PYURF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2725042	NM_001042616.3(PIGY):c.46T>C (p.Ser16Pro)	PIGY, PYURF (S16P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2654941	NM_001042616.3(PIGY):c.162T>C (p.Tyr54=)	PIGY, PYURF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2374521	NM_032906.5(PYURF):c.113A>C (p.Asp38Ala)	PYURF, PIGY (D38A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2000496	NM_001042616.3(PIGY):c.16C>T (p.Pro6Ser)	PIGY, PYURF (P6S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1493887	NM_001042616.3(PIGY):c.1A>G (p.Met1Val)	PIGY, PYURF (M1V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1478406	NM_001042616.3(PIGY):c.110C>G (p.Thr37Arg)	PIGY, PYURF (T37R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1283753	NM_032906.5(PYURF):c.222C>T (p.Asn74=)	PIGY, PYURF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1033242	NM_032906.5(PYURF):c.110C>T (p.Ala37Val)	PIGY, PYURF (A37V)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GUncertain significance
Select item 1033241	NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr)	PIGY, PYURF (C34Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GUncertain significance
Select item 1031009	NM_001042616.3(PIGY):c.151A>G (p.Ile51Val)	PIGY, PYURF (I51V)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6 +1 more	GUncertain significance
Select item 993284	NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)	PIGY, PYURF (Q97fs)	Microsatellite (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 791982	NM_001042616.3(PIGY):c.143C>T (p.Pro48Leu)	PIGY, PYURF (P48L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 425334	NM_001042616.3(PIGY):c.17C>G (p.Pro6Arg)	PIGY, PYURF (P6R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 222024	NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro)	PIGY, PYURF (L46P)	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 6	GPathogenic