PIGW[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1184293	Single allele	GGNBP2, MYO19 +2 more	Duplication	not provided	GUncertain significance
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 152570	GRCh38/hg38 17q12(chr17:36500215-36550767)x3	GGNBP2, MYO19 +1 more	Copy number gain	See cases	GBenign
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 1293105	NM_001346754.2(PIGW):c.-8-212=	MYO19, PIGW	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584191	NC_000017.11:g.(?_36537082)_(36538636_?)del	MYO19, PIGW	Deletion	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2782353	NM_001346754.2(PIGW):c.5C>A (p.Ser2Tyr)	MYO19, PIGW (S2Y)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2509915	NM_001346754.2(PIGW):c.7G>A (p.Glu3Lys)	MYO19, PIGW (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2731652	NM_001346754.2(PIGW):c.12G>A (p.Lys4=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2042973	NM_001346754.2(PIGW):c.15G>C (p.Gln5His)	MYO19, PIGW (Q5H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2012882	NM_001346754.2(PIGW):c.15G>T (p.Gln5His)	MYO19, PIGW (Q5H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2067972	NM_001346754.2(PIGW):c.21G>A (p.Lys7=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GBenign
Select item 576705	NM_001346754.2(PIGW):c.34A>G (p.Ser12Gly)	MYO19, PIGW (S12G)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1099021	NM_001346754.2(PIGW):c.54C>T (p.Thr18=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 793929	NM_001346754.2(PIGW):c.54C>G (p.Thr18=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2147486	NM_001346754.2(PIGW):c.55G>A (p.Val19Met)	MYO19, PIGW (V19M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 1661355	NM_001346754.2(PIGW):c.58C>T (p.Leu20=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1593996	NM_001346754.2(PIGW):c.69C>T (p.Thr23=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1385052	NM_001346754.2(PIGW):c.74G>A (p.Gly25Glu)	MYO19, PIGW (G25E)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1704328	NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser)	PIGW, MYO19 (L26S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GPathogenic
Select item 739142	NM_001346754.2(PIGW):c.100C>T (p.Leu34=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2124336	NM_001346754.2(PIGW):c.102G>A (p.Leu34=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2126010	NM_001346754.2(PIGW):c.106dup (p.Arg36fs)	MYO19, PIGW (R36fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 2040846	NM_001346754.2(PIGW):c.116T>C (p.Leu39Pro)	MYO19, PIGW (L39P)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2542541	NM_001346754.2(PIGW):c.125T>G (p.Phe42Cys)	MYO19, PIGW (F42C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2790912	NM_001346754.2(PIGW):c.132G>A (p.Gln44=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1360698	NM_001346754.2(PIGW):c.134_135del (p.Tyr45fs)	MYO19, PIGW (Y45fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2880761	NM_001346754.2(PIGW):c.144T>C (p.Ser48=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2099691	NM_001346754.2(PIGW):c.147T>C (p.Phe49=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1421255	NM_001346754.2(PIGW):c.152C>T (p.Pro51Leu)	MYO19, PIGW (P51L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1668783	NM_001346754.2(PIGW):c.153T>C (p.Pro51=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1478468	NM_001346754.2(PIGW):c.155C>T (p.Thr52Ile)	MYO19, PIGW (T52I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2914461	NM_001346754.2(PIGW):c.156C>G (p.Thr52=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 3022946	NM_001346754.2(PIGW):c.158G>A (p.Trp53Ter)	PIGW, MYO19 (W53*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1987347	NM_001346754.2(PIGW):c.159G>A (p.Trp53Ter)	MYO19, PIGW (W53*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2188512	NM_001346754.2(PIGW):c.171C>T (p.Phe57=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1704326	NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn)	MYO19, PIGW	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GPathogenic
Select item 1608001	NM_001346754.2(PIGW):c.186T>C (p.Val62=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2785137	NM_001346754.2(PIGW):c.190C>T (p.Leu64=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 156156	NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro)	MYO19, PIGW (T71P)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GPathogenic
Select item 762890	NM_001346754.2(PIGW):c.213T>G (p.Thr71=)	PIGW, MYO19	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2968970	NM_001346754.2(PIGW):c.216G>A (p.Leu72=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1908452	NM_001346754.2(PIGW):c.222T>C (p.Ile74=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2318448	NM_001346754.2(PIGW):c.226G>A (p.Ala76Thr)	MYO19, PIGW (A76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1925906	NM_001346754.2(PIGW):c.234T>A (p.Phe78Leu)	MYO19, PIGW (F78L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1615083	NM_001346754.2(PIGW):c.234T>C (p.Phe78=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2404192	NM_001346754.2(PIGW):c.238C>T (p.Leu80Phe)	MYO19, PIGW (L80F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1919599	NM_001346754.2(PIGW):c.252C>T (p.Leu84=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 784571	NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser)	MYO19, PIGW (G85S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2975533	NM_001346754.2(PIGW):c.262A>G (p.Ile88Val)	PIGW, MYO19 (I88V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1472249	NM_001346754.2(PIGW):c.271_272delinsAT (p.Ala91Ile)	MYO19, PIGW (A91I)	Indel (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 445649	NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter)	MYO19, PIGW (L94*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1900228	NM_001346754.2(PIGW):c.291del (p.Tyr98fs)	MYO19, PIGW (Y98fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1467375	NM_001346754.2(PIGW):c.292T>C (p.Tyr98His)	MYO19, PIGW (Y98H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 2114470	NM_001346754.2(PIGW):c.294C>T (p.Tyr98=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1387860	NM_001346754.2(PIGW):c.295C>T (p.Arg99Ter)	MYO19, PIGW (R99*)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1951514	NM_001346754.2(PIGW):c.296G>A (p.Arg99Gln)	MYO19, PIGW (R99Q)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1024240	NM_001346754.2(PIGW):c.296G>C (p.Arg99Pro)	MYO19, PIGW (R99P)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1403516	NM_001346754.2(PIGW):c.307T>C (p.Cys103Arg)	MYO19, PIGW (C103R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1387877	NM_001346754.2(PIGW):c.308G>T (p.Cys103Phe)	MYO19, PIGW (C103F)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2186490	NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)	MYO19, PIGW (C103W)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GBenign
Select item 1512281	NM_001346754.2(PIGW):c.313G>A (p.Ala105Thr)	MYO19, PIGW (A105T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1515473	NM_001346754.2(PIGW):c.320T>G (p.Leu107Arg)	MYO19, PIGW (L107R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2007869	NM_001346754.2(PIGW):c.322C>T (p.Pro108Ser)	MYO19, PIGW (P108S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2106966	NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu)	MYO19, PIGW (P108L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1506181	NM_001346754.2(PIGW):c.328C>G (p.Leu110Val)	MYO19, PIGW (L110V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1516142	NM_001346754.2(PIGW):c.359G>A (p.Ser120Asn)	MYO19, PIGW (S120N)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1583408	NM_001346754.2(PIGW):c.360T>C (p.Ser120=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 3306525	NM_001346754.2(PIGW):c.364G>A (p.Glu122Lys)	MYO19, PIGW (E122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2202189	NM_001346754.2(PIGW):c.385A>G (p.Ile129Val)	MYO19, PIGW (I129V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance

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