"Illumina Laboratory Services, Illumina"[submitter] AND "PIGV"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368873	NM_017837.3(PIGV):c.-370G>A	PIGV	Single nucleotide variant	Hyperphosphatasia-intellectual disability syndrome	GLikely benign
Select item 297110	NM_017837.4(PIGV):c.-338A>C	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GBenign
Select item 297111	NM_017837.4(PIGV):c.-333C>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GBenign
Select item 297112	NM_017837.4(PIGV):c.-323C>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876577	NM_017837.4(PIGV):c.-184G>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876578	NM_017837.4(PIGV):c.-166G>A	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873720	NM_017837.4(PIGV):c.-68G>A	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297113	NM_017837.4(PIGV):c.-57-6G>A	PIGV	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873721	NM_017837.4(PIGV):c.78+4A>G	PIGV	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297114	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)	PIGV (P34L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GBenign/Likely benign
Select item 873722	NM_017837.4(PIGV):c.223G>A (p.Ala75Thr)	PIGV (A75T)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873723	NM_017837.4(PIGV):c.265C>T (p.Pro89Ser)	PIGV (P89S)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873724	NM_017837.4(PIGV):c.312C>G (p.Pro104=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297115	NM_017837.4(PIGV):c.348G>A (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	PIGV-related condition +3 more	GConflicting classifications of pathogenicity
Select item 297116	NM_017837.4(PIGV):c.349A>G (p.Ile117Val)	PIGV (I117V)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 733557	NM_017837.4(PIGV):c.473G>A (p.Ser158Asn)	PIGV (S31N +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GLikely benign
Select item 297117	NM_017837.4(PIGV):c.531A>T (p.Thr177=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 421662	NM_017837.4(PIGV):c.614A>G (p.Asn205Ser)	PIGV (N205S +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 382935	NM_017837.4(PIGV):c.615C>T (p.Asn205=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 874689	NM_017837.4(PIGV):c.732G>A (p.Ser244=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297118	NM_017837.4(PIGV):c.808C>T (p.Arg270Cys)	PIGV (R270C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 507450	NM_017837.4(PIGV):c.809G>A (p.Arg270His)	PIGV (R270H +2 more)	Single nucleotide variant (missense variant +2 more)	PIGV-related condition +3 more	GConflicting classifications of pathogenicity
Select item 297119	NM_017837.4(PIGV):c.851G>A (p.Gly284Asp)	PIGV (G284D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 384153	NM_017837.4(PIGV):c.879G>A (p.Pro293=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 875630	NM_017837.4(PIGV):c.968A>G (p.Lys323Arg)	PIGV (K196R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 875631	NM_017837.4(PIGV):c.980A>G (p.Asn327Ser)	PIGV (N118S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 297120	NM_017837.4(PIGV):c.1008A>G (p.Ile336Met)	PIGV (I336M +2 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 1284	NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	PIGV (A341E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 451215	NM_017837.4(PIGV):c.1147G>A (p.Val383Met)	PIGV (V383M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 297121	NM_017837.4(PIGV):c.1213T>A (p.Phe405Ile)	PIGV (F405I +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 197314	NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu)	PIGV (P426L +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 426552	NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)	PIGV (L457F +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 297122	NM_017837.4(PIGV):c.1464C>T (p.Asn488=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876634	NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu)	PIGV (F362L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 297123	NM_017837.4(PIGV):c.1477A>G (p.Thr493Ala)	PIGV (T493A +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GUncertain significance
Select item 297124	NM_017837.4(PIGV):c.*110T>C	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876635	NM_017837.4(PIGV):c.*114C>A	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297125	NM_017837.4(PIGV):c.*149G>A	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GBenign
Select item 876636	NM_017837.4(PIGV):c.*167G>A	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GBenign
Select item 297126	NM_017837.4(PIGV):c.*186G>T	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297127	NM_017837.4(PIGV):c.*210A>G	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 297128	NM_017837.4(PIGV):c.*367A>G	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297129	NM_017837.4(PIGV):c.*385A>T	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297130	NM_017837.4(PIGV):c.*441C>T	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297131	NM_017837.4(PIGV):c.*453A>T	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873782	NM_017837.4(PIGV):c.*456C>T	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873783	NM_017837.4(PIGV):c.*473T>G	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 297132	NM_017837.4(PIGV):c.*518dup	PIGV	Duplication (3 prime UTR variant +1 more)	Hyperphosphatasia-intellectual disability syndrome	GUncertain significance

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Items: 48