"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	RANGAP1, RBX1 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2729176	NM_001429.4(EP300):c.2818-20T>G	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2729510	NM_001429.4(EP300):c.2818-19C>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2725103	NM_001429.4(EP300):c.2818-18C>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2168296	NM_001429.4(EP300):c.2818-8C>G	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2731506	NM_001429.4(EP300):c.2818-5C>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2181791	NM_001429.4(EP300):c.2829A>G (p.Pro943=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1304135	NM_001429.4(EP300):c.2838C>G (p.Ser946Arg)	EP300, LOC126863158 (S920R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2880275	NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)	EP300, LOC126863158 (P955Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2890396	NM_001429.4(EP300):c.2868T>C (p.Ser956=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2653201	NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)	EP300, LOC126863158 (T931S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2634618	NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)	EP300, LOC126863158 (S932G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 1190573	NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)	EP300, LOC126863158 (S933I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2732068	NM_001429.4(EP300):c.2889T>C (p.Asn963=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2914181	NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)	EP300, LOC126863158 (S938Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2719963	NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)	EP300, LOC126863158 (Q939L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2895961	NM_001429.4(EP300):c.2898C>T (p.Ala966=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2757870	NM_001429.4(EP300):c.2913G>C (p.Gln971His)	EP300, LOC126863158 (Q945H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2188434	NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)	EP300, LOC126863158 (P946L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 1206852	NM_001429.4(EP300):c.2916T>C (p.Pro972=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2979688	NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)	EP300, LOC126863158 (S947A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 712721	NM_001429.4(EP300):c.2925A>G (p.Glu975=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2799803	NM_001429.4(EP300):c.2940C>T (p.Ala980=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2160752	NM_001429.4(EP300):c.2946G>A (p.Met982Ile)	EP300, LOC126863158 (M982I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1959440	NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)	EP300, LOC126863158 (D959E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2794338	NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)	EP300, LOC126863158 (P963T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2920039	NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)	EP300, LOC126863158 (T966A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2802820	NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)	EP300, LOC126863158 (T966S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1308900	NM_001429.4(EP300):c.2975C>A (p.Thr992Asn)	EP300, LOC126863158 (T966N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2724425	NM_001429.4(EP300):c.2982G>A (p.Pro994=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 538873	NM_001429.4(EP300):c.2983G>T (p.Glu995Ter)	EP300, LOC126863158 (E995* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 93736	NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	LOC126863158, EP300 (I997V +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +3 more	GBenign
Select item 1958970	NM_001429.4(EP300):c.2997+10G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1234454	NM_001429.4(EP300):c.2997+12G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign
Select item 2059042	NM_001429.4(EP300):c.2997+14A>G	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1601242	NM_001429.4(EP300):c.2998-14dup	EP300, LOC126863158	Duplication (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2192256	NM_001429.4(EP300):c.2998-13C>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2052289	NM_001429.4(EP300):c.2998-13del	EP300, LOC126863158	Deletion (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 158561	NM_001429.4(EP300):c.2998-12G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1227369	NM_001429.4(EP300):c.2998-3del	EP300, LOC126863158	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 765448	NM_001429.4(EP300):c.3030C>T (p.Thr1010=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 281394	NM_001429.4(EP300):c.3030C>G (p.Thr1010=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 441039	NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln)	EP300, LOC126863158 (E1011Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2887755	NM_001429.4(EP300):c.3045A>G (p.Arg1015=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 93737	NM_001429.4(EP300):c.3063T>C (p.Thr1021=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 487227	NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)	EP300, LOC126863158 (K1024fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 713927	NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp)	EP300, LOC126863158 (E1000D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2836668	NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)	EP300, LOC126863158 (D1002E +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 210939	NM_001429.4(EP300):c.3105C>T (p.Thr1035=)	LOC126863158, EP300	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2418315	NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)	EP300, LOC126863158 (P1013L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 1469832	NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr)	EP300, LOC126863158 (A1014T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2962947	NM_001429.4(EP300):c.3123A>G (p.Pro1041=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2149902	NM_001429.4(EP300):c.3138A>G (p.Lys1046=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2173901	NM_001429.4(EP300):c.3142+8T>C	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2992935	NM_001429.4(EP300):c.3142+17A>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2724239	NM_001429.4(EP300):c.3142+20C>T	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign

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Items: 56