ClinVar for Gene (Select 284098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382635	NM_001346754.2(PIGW):c.1112del (p.Asn370_Leu371insTer)	MYO19, PIGW	Deletion (nonsense)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 3380484	NM_001346754.2(PIGW):c.758T>C (p.Leu253Ser)	MYO19, PIGW (L253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380483	NM_001346754.2(PIGW):c.111del (p.Phe38fs)	MYO19, PIGW (F38fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
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 3306524	NM_001346754.2(PIGW):c.941C>A (p.Ala314Glu)	MYO19, PIGW (A314E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255179	NM_001346754.2(PIGW):c.1451del (p.Met484fs)	MYO19, PIGW (M484fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3212844	NM_001346754.2(PIGW):c.1157G>A (p.Ser386Asn)	MYO19, PIGW (S386N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	AATF, ACACA +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
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 2992381	NM_001346754.2(PIGW):c.634C>T (p.Leu212=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2986227	NM_001346754.2(PIGW):c.723C>T (p.Thr241=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2981127	NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 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 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 2896385	NM_001346754.2(PIGW):c.607T>C (p.Leu203=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2895123	NM_001346754.2(PIGW):c.723C>A (p.Thr241=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2884776	NM_001346754.2(PIGW):c.849G>A (p.Arg283=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2883453	NM_001346754.2(PIGW):c.840A>G (p.Ser280=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 2879852	NM_001346754.2(PIGW):c.1185G>A (p.Leu395=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2877528	NM_001346754.2(PIGW):c.400G>A (p.Val134Ile)	MYO19, PIGW (V134I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2872533	NM_001346754.2(PIGW):c.924T>C (p.Ser308=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2858858	NM_001346754.2(PIGW):c.1194C>T (p.Ala398=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2857712	NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2807882	NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2791770	NM_001346754.2(PIGW):c.759G>A (p.Leu253=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 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 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 2770593	NM_001346754.2(PIGW):c.750A>G (p.Pro250=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2738052	NM_001346754.2(PIGW):c.801C>T (p.Gly267=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 2730486	NM_001346754.2(PIGW):c.1359G>A (p.Leu453=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic
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 2612975	NM_001346754.2(PIGW):c.821T>C (p.Leu274Pro)	MYO19, PIGW (L274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	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 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
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 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 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	GPathogenic
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 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2481800	NM_001346754.2(PIGW):c.1087G>A (p.Ala363Thr)	MYO19, PIGW (A363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445208	Single allele	AATF, ACACA +13 more	Deletion	See cases	GLikely pathogenic
Select item 2434854	NM_001346754.2(PIGW):c.439G>A (p.Val147Met)	MYO19, PIGW (V147M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	AATF, ACACA +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2419770	NM_001346754.2(PIGW):c.1482A>G (p.Leu494=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2418556	NM_001346754.2(PIGW):c.1290A>G (p.Glu430=)	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 2401161	NM_001346754.2(PIGW):c.1063T>A (p.Tyr355Asn)	MYO19, PIGW (Y355N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2297023	NM_001346754.2(PIGW):c.1395G>A (p.Met465Ile)	MYO19, PIGW (M465I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277734	NM_001346754.2(PIGW):c.1423T>A (p.Trp475Arg)	MYO19, PIGW (W475R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255915	NM_001346754.2(PIGW):c.1010T>C (p.Ile337Thr)	MYO19, PIGW (I337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233797	NM_001346754.2(PIGW):c.912A>C (p.Glu304Asp)	MYO19, PIGW (E304D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227708	NM_001346754.2(PIGW):c.695A>G (p.Tyr232Cys)	MYO19, PIGW (Y232C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 2196439	NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg)	MYO19, PIGW (G215R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2195197	NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr)	MYO19, PIGW (I393T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2194941	NM_001346754.2(PIGW):c.660A>G (p.Ile220Met)	MYO19, PIGW (I220M)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2194549	NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser)	MYO19, PIGW (L203S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2193082	NM_001346754.2(PIGW):c.906C>T (p.Asn302=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 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 2185456	NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr)	MYO19, PIGW (A476T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2185395	NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser)	MYO19, PIGW (N259S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
Select item 2170468	NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu)	MYO19, PIGW (P429L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2162063	NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp)	MYO19, PIGW (G391D)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 2146883	NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys)	MYO19, PIGW (R303C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2140704	NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly)	MYO19, PIGW (S471G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135569	NM_001346754.2(PIGW):c.979C>T (p.His327Tyr)	MYO19, PIGW (H327Y)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2134203	NM_001346754.2(PIGW):c.879C>T (p.Gly293=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2133370	NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr)	MYO19, PIGW (R188T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 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 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 2112545	NM_001346754.2(PIGW):c.547C>G (p.Leu183Val)	MYO19, PIGW (L183V)	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 2105535	NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs)	MYO19, PIGW (Y355fs)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2102580	NM_001346754.2(PIGW):c.1307C>A (p.Pro436His)	PIGW, MYO19 (P436H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2101101	NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr)	MYO19, PIGW (I243T)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 2095276	NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg)	MYO19, PIGW (L413R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2088758	NM_001346754.2(PIGW):c.436G>T (p.Ala146Ser)	MYO19, PIGW (A146S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2087570	NM_001346754.2(PIGW):c.1246T>C (p.Ser416Pro)	MYO19, PIGW (S416P)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2074695	NM_001346754.2(PIGW):c.1284C>A (p.Val428=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 2071766	NM_001346754.2(PIGW):c.1479A>C (p.Val493=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 2062413	NM_001346754.2(PIGW):c.455T>G (p.Phe152Cys)	MYO19, PIGW (F152C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2056456	NM_001346754.2(PIGW):c.891T>G (p.Gly297=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign

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