C3279775[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648516	NC_000018.9:g.(?_59713069)_(60131307_?)dup	LOC132090497, LOC130062628 +16 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 472229	NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn)	PIGN (S928N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2040490	NM_176787.5(PIGN):c.2776C>A (p.Pro926Thr)	PIGN (P926T)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1509123	NM_176787.5(PIGN):c.2771del (p.Gly924fs)	PIGN (G924fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 859862	NM_176787.5(PIGN):c.2768G>C (p.Cys923Ser)	PIGN (C923S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 2114893	NM_176787.5(PIGN):c.2766A>G (p.Leu922=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2090978	NM_176787.5(PIGN):c.2764C>T (p.Leu922=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2762314	NM_176787.5(PIGN):c.2763A>G (p.Arg921=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 948007	NM_176787.5(PIGN):c.2761dup (p.Arg921fs)	PIGN (R921fs)	Duplication (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1795573	NM_176787.5(PIGN):c.2751G>A (p.Thr917=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 472228	NM_176787.5(PIGN):c.2751G>T (p.Thr917=)	PIGN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 586231	NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)	PIGN (T917M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1046650	NM_176787.5(PIGN):c.2747C>T (p.Thr916Ile)	PIGN (T916I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 946479	NM_176787.5(PIGN):c.2746A>G (p.Thr916Ala)	PIGN (T916A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 472227	NM_176787.5(PIGN):c.2745C>G (p.Leu915=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2801929	NM_176787.5(PIGN):c.2742G>T (p.Leu914=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2648774	NM_176787.5(PIGN):c.2736C>G (p.Ala912=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 2118245	NM_176787.5(PIGN):c.2736C>T (p.Ala912=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 737088	NM_176787.5(PIGN):c.2733G>C (p.Leu911=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 2797814	NM_176787.5(PIGN):c.2730C>T (p.Gly910=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 737665	NM_176787.5(PIGN):c.2724C>T (p.Leu908=)	PIGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2798250	NM_176787.5(PIGN):c.2721C>T (p.Phe907=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1387855	NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu)	PIGN (F907L)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 1666783	NM_176787.5(PIGN):c.2713T>C (p.Leu905=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472226	NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu)	PIGN (F904L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 589126	NM_176787.5(PIGN):c.2707A>G (p.Ile903Val)	PIGN (I903V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2954900	NM_176787.5(PIGN):c.2706C>T (p.Thr902=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1475663	NM_176787.5(PIGN):c.2701A>G (p.Met901Val)	PIGN (M901V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1648007	NM_176787.5(PIGN):c.2700C>T (p.Ser900=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 577994	NM_176787.5(PIGN):c.2693T>C (p.Val898Ala)	PIGN (V898A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2694811	NM_176787.5(PIGN):c.2691T>A (p.Ile897=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2190984	NM_176787.5(PIGN):c.2684A>G (p.Tyr895Cys)	PIGN (Y895C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 449082	NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	PIGN (S893R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653844	NM_176787.5(PIGN):c.2674A>G (p.Ile892Val)	PIGN (I892V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1078796	NM_176787.5(PIGN):c.2673-8T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1605766	NM_176787.5(PIGN):c.2673-16T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2094347	NM_176787.5(PIGN):c.2673-20A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2986001	NM_176787.5(PIGN):c.2672+16del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2026435	NM_176787.5(PIGN):c.2672+13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472225	NM_176787.5(PIGN):c.2672+10A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1077305	NM_176787.5(PIGN):c.2672+7T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1436090	NM_176787.5(PIGN):c.2672+4T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1369181	NM_176787.5(PIGN):c.2672+3A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 449284	NM_176787.5(PIGN):c.2672+1G>T	PIGN	Single nucleotide variant (splice donor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1007807	NM_176787.5(PIGN):c.2671A>G (p.Ser891Gly)	PIGN (S891G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1417744	NM_176787.5(PIGN):c.2668A>G (p.Thr890Ala)	PIGN (T890A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1994693	NM_176787.5(PIGN):c.2666G>T (p.Gly889Val)	PIGN (G889V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2789630	NM_176787.5(PIGN):c.2655del (p.Trp885fs)	PIGN (W885fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2086119	NM_176787.5(PIGN):c.2655G>C (p.Trp885Cys)	PIGN (W885C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1401181	NM_176787.5(PIGN):c.2651G>T (p.Ser884Ile)	PIGN (S884I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2735265	NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)	PIGN (G883fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 846654	NM_176787.5(PIGN):c.2647G>A (p.Gly883Ser)	PIGN (G883S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 844036	NM_176787.5(PIGN):c.2644_2645insTGCC (p.Tyr882fs)	PIGN (Y882fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1093801	NM_176787.5(PIGN):c.2637C>T (p.Val879=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1715848	NM_176787.5(PIGN):c.2636T>C (p.Val879Ala)	PIGN (V879A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 938970	NM_176787.5(PIGN):c.2635G>A (p.Val879Ile)	PIGN (V879I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 579491	NM_176787.5(PIGN):c.2624T>G (p.Phe875Cys)	PIGN (F875C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1793946	NM_176787.5(PIGN):c.2620C>A (p.His874Asn)	PIGN (H874N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 663869	NM_176787.5(PIGN):c.2620-1G>A	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 1465986	NM_176787.5(PIGN):c.2620-2A>G	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 1116784	NM_176787.5(PIGN):c.2620-17_2620-15dup	PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 681232	NM_176787.5(PIGN):c.2620-17_2620-16dup	PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GBenign
Select item 587858	NM_176787.5(PIGN):c.2620-17dup	PIGN	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1128189	NM_176787.5(PIGN):c.2620-6_2620-5insTC	PIGN	Insertion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 218857	NM_176787.5(PIGN):c.2620-5del	PIGN	Deletion (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2858061	NM_176787.5(PIGN):c.2620-14T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2199138	NM_176787.5(PIGN):c.2620-18C>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2865265	NM_176787.5(PIGN):c.2620-19C>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2727474	NM_176787.5(PIGN):c.2620-19C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2157492	NM_176787.5(PIGN):c.2619+20T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2701805	NM_176787.5(PIGN):c.2619+17T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2909231	NM_176787.5(PIGN):c.2619+15G>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2730944	NM_176787.5(PIGN):c.2619+14G>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1170494	NM_176787.5(PIGN):c.2619+14G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GBenign/Likely benign
Select item 2775624	NM_176787.5(PIGN):c.2619+13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2916403	NM_176787.5(PIGN):c.2619+12C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2068012	NM_176787.5(PIGN):c.2615C>G (p.Ala872Gly)	PIGN (A872G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2095041	NM_176787.5(PIGN):c.2606A>G (p.Asp869Gly)	PIGN (D869G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2693988	NM_176787.5(PIGN):c.2601A>C (p.Ile867=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472224	NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr)	PIGN (I867T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 576219	NM_176787.5(PIGN):c.2596G>A (p.Val866Ile)	PIGN (V866I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1186462	NM_176787.5(PIGN):c.2595C>T (p.Leu865=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 472223	NM_176787.5(PIGN):c.2590G>A (p.Val864Ile)	PIGN (V864I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1651192	NM_176787.5(PIGN):c.2589T>C (p.Ile863=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2697729	NM_176787.5(PIGN):c.2586C>A (p.Leu862=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2022001	NM_176787.5(PIGN):c.2586C>G (p.Leu862=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 662157	NM_176787.5(PIGN):c.2583_2584insTC (p.Leu862fs)	PIGN (L862fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 472222	NM_176787.5(PIGN):c.2580T>A (p.Leu860=)	PIGN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1499050	NM_176787.5(PIGN):c.2577C>G (p.Ser859Arg)	PIGN (S859R)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 647228	NM_176787.5(PIGN):c.2577C>A (p.Ser859Arg)	PIGN (S859R)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 836210	NM_176787.5(PIGN):c.2577-1G>A	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 2821018	NM_176787.5(PIGN):c.2577-4_2577-3insA	PIGN	Insertion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2821019	NM_176787.5(PIGN):c.2577-4C>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472221	NM_176787.5(PIGN):c.2577-13dup	PIGN	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1610886	NM_176787.5(PIGN):c.2577-5del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GBenign
Select item 2706711	NM_176787.5(PIGN):c.2577-13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1543391	NM_176787.5(PIGN):c.2577-14_2577-13del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 3014074	NM_176787.5(PIGN):c.2577-15T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2812260	NM_176787.5(PIGN):c.2576+20G>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2725475	NM_176787.5(PIGN):c.2576+18A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign

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