C4014958[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 257

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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=)	PIGW, MYO19	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 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)	not provided +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 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 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 762890	NM_001346754.2(PIGW):c.213T>G (p.Thr71=)	MYO19, PIGW	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 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 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 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
Select item 1396143	NM_001346754.2(PIGW):c.397C>T (p.Arg133Cys)	MYO19, PIGW (R133C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1436038	NM_001346754.2(PIGW):c.398G>A (p.Arg133His)	MYO19, PIGW (R133H)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 1668681	NM_001346754.2(PIGW):c.405T>C (p.Ile135=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1363215	NM_001346754.2(PIGW):c.407C>G (p.Thr136Ser)	MYO19, PIGW (T136S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1433435	NM_001346754.2(PIGW):c.410G>A (p.Ser137Asn)	MYO19, PIGW (S137N)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1914169	NM_001346754.2(PIGW):c.413C>T (p.Ala138Val)	MYO19, PIGW (A138V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1003144	NM_001346754.2(PIGW):c.424A>G (p.Ile142Val)	MYO19, PIGW (I142V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 580147	NM_001346754.2(PIGW):c.431T>G (p.Ile144Ser)	MYO19, PIGW (I144S)	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 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 1346140	NM_001346754.2(PIGW):c.460AGA[1] (p.Arg155del)	MYO19, PIGW (R155del)	Microsatellite (inframe_deletion)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1582242	NM_001346754.2(PIGW):c.462A>G (p.Arg154=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1367025	NM_001346754.2(PIGW):c.465A>C (p.Arg155Ser)	MYO19, PIGW (R155S)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1478660	NM_001346754.2(PIGW):c.485A>G (p.Tyr162Cys)	MYO19, PIGW (Y162C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1384912	NM_001346754.2(PIGW):c.488G>T (p.Gly163Val)	MYO19, PIGW (G163V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1501063	NM_001346754.2(PIGW):c.491C>T (p.Thr164Ile)	MYO19, PIGW (T164I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1899276	NM_001346754.2(PIGW):c.501G>C (p.Met167Ile)	MYO19, PIGW (M167I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1444545	NM_001346754.2(PIGW):c.512dup (p.Gly172fs)	MYO19, PIGW (G172fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1481005	NM_001346754.2(PIGW):c.530G>A (p.Gly177Glu)	MYO19, PIGW (G177E)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 715283	NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)	MYO19, PIGW (S178C)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GConflicting classifications of pathogenicity
Select item 1907409	NM_001346754.2(PIGW):c.537A>G (p.Ala179=)	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 1449629	NM_001346754.2(PIGW):c.558dup (p.Arg187fs)	MYO19, PIGW (R187fs)	Duplication (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1389453	NM_001346754.2(PIGW):c.560G>A (p.Arg187Lys)	MYO19, PIGW (R187K)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5 +1 more	GUncertain significance
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 737116	NM_001346754.2(PIGW):c.570T>C (p.Tyr190=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 955604	NM_001346754.2(PIGW):c.599C>T (p.Thr200Ile)	PIGW, MYO19 (T200I)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 2003316	NM_001346754.2(PIGW):c.600A>G (p.Thr200=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
Select item 1467476	NM_001346754.2(PIGW):c.606_608del (p.Leu203del)	PIGW, MYO19 (L203del)	Deletion (inframe_deletion)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 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 1914763	NM_001346754.2(PIGW):c.613T>G (p.Ser205Ala)	MYO19, PIGW (S205A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377301	NM_001346754.2(PIGW):c.617_620del (p.Val206fs)	MYO19, PIGW (V206fs)	Deletion (frameshift variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1399328	NM_001346754.2(PIGW):c.619T>A (p.Trp207Arg)	MYO19, PIGW (W207R)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1897168	NM_001346754.2(PIGW):c.623C>T (p.Pro208Leu)	PIGW, MYO19 (P208L)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
Select item 1666583	NM_001346754.2(PIGW):c.624A>G (p.Pro208=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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 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 1640117	NM_001346754.2(PIGW):c.642C>T (p.Ile214=)	MYO19, PIGW	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 5	GLikely benign
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

<< First< Prev

Page of 3