"GeneDx"[submitter] AND "PIGW"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152570	GRCh38/hg38 17q12(chr17:36500215-36550767)x3	GGNBP2, MYO19 +1 more	Copy number gain	See cases	GBenign
Select item 1293105	NM_001346754.2(PIGW):c.-8-212=	MYO19, PIGW	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452328	NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)	MYO19, PIGW (R36G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 426691	NM_001346754.2(PIGW):c.200C>T (p.Pro67Leu)	MYO19, PIGW (P67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426690	NM_001346754.2(PIGW):c.230C>T (p.Ser77Leu)	MYO19, PIGW (S77L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2662197	NM_001346754.2(PIGW):c.248T>G (p.Leu83Arg)	MYO19, PIGW (L83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165736	NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp)	MYO19, PIGW (N126D)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GBenign
Select item 377301	NM_001346754.2(PIGW):c.617_620del (p.Val206fs)	PIGW, MYO19 (V206fs)	Deletion (frameshift variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1369704	NM_001346754.2(PIGW):c.637G>A (p.Gly213Arg)	MYO19, PIGW (G213R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303678	NM_001346754.2(PIGW):c.647G>A (p.Arg216Gln)	MYO19, PIGW (R216Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1303679	NM_001346754.2(PIGW):c.659T>G (p.Ile220Arg)	MYO19, PIGW (I220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377070	NM_001346754.2(PIGW):c.705C>G (p.His235Gln)	MYO19, PIGW (H235Q)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GBenign/Likely benign
Select item 452030	NM_001346754.2(PIGW):c.968G>T (p.Gly323Val)	PIGW, MYO19 (G323V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502502	NM_001346754.2(PIGW):c.988C>T (p.Arg330Ter)	MYO19, PIGW (R330*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 768874	NM_001346754.2(PIGW):c.1020C>T (p.Ala340=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 452029	NM_001346754.2(PIGW):c.1027_1029del (p.Leu345del)	MYO19, PIGW (L345del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1446642	NM_001346754.2(PIGW):c.1060_1061del (p.Tyr355fs)	MYO19, PIGW (Y355fs)	Microsatellite (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 452327	NM_001346754.2(PIGW):c.1316G>C (p.Cys439Ser)	MYO19, PIGW (C439S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438495	NM_001346754.2(PIGW):c.1438G>A (p.Val480Ile)	MYO19, PIGW (V480I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 253502	GRCh37/hg19 17q12(chr17:34849849-36151346)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 253472	GRCh37/hg19 17q12(chr17:34849849-36151346)x3	AATF, ACACA +13 more	Copy number gain	See cases	GPathogenic

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Items: 21