"Invitae"[submitter] AND "LOC126861012"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2868324	NM_000392.5(ABCC2):c.2621-20C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967865	NM_000392.5(ABCC2):c.2621-19C>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006632	NM_000392.5(ABCC2):c.2621-12G>C	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836899	NM_000392.5(ABCC2):c.2621-12G>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797917	NM_000392.5(ABCC2):c.2621-12G>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110158	NM_000392.5(ABCC2):c.2626G>C (p.Asp876His)	ABCC2, LOC126861012 (D876H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972145	NM_000392.5(ABCC2):c.2628T>C (p.Asp876=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012617	NM_000392.5(ABCC2):c.2640A>G (p.Glu880=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related condition +1 more	GLikely benign
Select item 2984955	NM_000392.5(ABCC2):c.2646C>T (p.Asp882=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893275	NM_000392.5(ABCC2):c.2649T>C (p.Asp883=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	ABCC2-related condition +1 more	GLikely benign
Select item 3005709	NM_000392.5(ABCC2):c.2658G>T (p.Gly886=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979194	NM_000392.5(ABCC2):c.2674G>A (p.Glu892Lys)	ABCC2, LOC126861012 (E892K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955990	NM_000392.5(ABCC2):c.2685C>T (p.Pro895=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500325	NM_000392.5(ABCC2):c.2686G>A (p.Glu896Lys)	ABCC2, LOC126861012 (E896K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500470	NM_000392.5(ABCC2):c.2700C>T (p.Ser900=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2830215	NM_000392.5(ABCC2):c.2706C>A (p.Thr902=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799821	NM_000392.5(ABCC2):c.2706C>G (p.Thr902=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 502695	NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)	LOC126861012, ABCC2 (R905K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3013955	NM_000392.5(ABCC2):c.2731C>T (p.Arg911Ter)	LOC126861012, ABCC2 (R911*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2978083	NM_000392.5(ABCC2):c.2733A>G (p.Arg911=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 282329	NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys)	ABCC2, LOC126861012 (R915C)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 298459	NM_000392.5(ABCC2):c.2747+5G>A	LOC126861012, ABCC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2901321	NM_000392.5(ABCC2):c.2747+8A>C	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755489	NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT	ABCC2, LOC126861012	Insertion (intron variant)	not provided	GLikely benign
Select item 596706	NM_000392.5(ABCC2):c.2747+10C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2961814	NM_000392.5(ABCC2):c.2747+11_2747+14del	ABCC2, LOC126861012	Deletion (intron variant)	not provided	GLikely benign
Select item 2755490	NM_000392.5(ABCC2):c.2747+11T>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755491	NM_000392.5(ABCC2):c.2747+13T>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755492	NM_000392.5(ABCC2):c.2747+15C>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776112	NM_000392.5(ABCC2):c.2747+17G>A	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021225	NM_000392.5(ABCC2):c.2748-13T>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2841756	NM_000392.5(ABCC2):c.2748-10C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780678	NM_000392.5(ABCC2):c.2748-7C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818167	NM_000392.5(ABCC2):c.2748-2A>C	ABCC2, LOC126861012	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2959979	NM_000392.5(ABCC2):c.2748-1G>T	ABCC2, LOC126861012	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2794370	NM_000392.5(ABCC2):c.2754G>A (p.Arg918=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793245	NM_000392.5(ABCC2):c.2760T>C (p.Asn920=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773519	NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser)	ABCC2, LOC126861012 (G921S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2891341	NM_000392.5(ABCC2):c.2772G>A (p.Leu924=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799029	NM_000392.5(ABCC2):c.2784A>G (p.Arg928=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959642	NM_000392.5(ABCC2):c.2799T>C (p.Thr933=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721106	NM_000392.5(ABCC2):c.2801G>A (p.Arg934Gln)	ABCC2, LOC126861012 (R934Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2972768	NM_000392.5(ABCC2):c.2802G>T (p.Arg934=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753829	NM_000392.5(ABCC2):c.2805T>C (p.Asn935=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746972	NM_000392.5(ABCC2):c.2808G>A (p.Val936=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793383	NM_000392.5(ABCC2):c.2811T>C (p.Asn937=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 282331	NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn)	ABCC2, LOC126861012 (S938N)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +3 more	GLikely benign
Select item 2843683	NM_000392.5(ABCC2):c.2814C>T (p.Ser938=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 594127	NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2712414	NM_000392.5(ABCC2):c.2832A>G (p.Glu944=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875206	NM_000392.5(ABCC2):c.2853A>G (p.Leu951=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711720	NM_000392.5(ABCC2):c.2862G>A (p.Lys954=)	ABCC2, LOC126861012	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910251	NM_000392.5(ABCC2):c.2882A>G (p.Lys961Arg)	ABCC2, LOC126861012 (K961R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3000637	NM_000392.5(ABCC2):c.2883+7A>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879192	NM_000392.5(ABCC2):c.2883+8C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 298460	NM_000392.5(ABCC2):c.2883+11C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2783549	NM_000392.5(ABCC2):c.2883+15del	ABCC2, LOC126861012	Deletion (intron variant)	not provided	GLikely benign

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Items: 57