"GeneDx"[submitter] AND "LOC126863158"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1281719	NM_001429.4(EP300):c.2818-157dup	EP300, LOC126863158	Duplication (intron variant)	not provided	GBenign
Select item 1304135	NM_001429.4(EP300):c.2838C>G (p.Ser946Arg)	EP300, LOC126863158 (S920R +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 1206852	NM_001429.4(EP300):c.2916T>C (p.Pro972=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
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 1314392	NM_001429.4(EP300):c.2983G>A (p.Glu995Lys)	EP300, LOC126863158 (E969K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93736	NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	EP300, LOC126863158 (I997V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more	GBenign
Select item 667233	NM_001429.4(EP300):c.2997+1G>A	EP300, LOC126863158	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1234454	NM_001429.4(EP300):c.2997+12G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158561	NM_001429.4(EP300):c.2998-12G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 1227369	NM_001429.4(EP300):c.2998-3del	EP300, LOC126863158	Deletion (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 2577745	NM_001429.4(EP300):c.2999C>A (p.Ser1000Tyr)	EP300, LOC126863158 (S1000Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281394	NM_001429.4(EP300):c.3030C>G (p.Thr1010=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 817350	NM_001429.4(EP300):c.3039_3043del (p.Glu1014fs)	EP300, LOC126863158 (E988fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 210939	NM_001429.4(EP300):c.3105C>T (p.Thr1035=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2502650	NM_001429.4(EP300):c.3107_3108insTCT (p.Gln1036delinsHisLeu)	EP300, LOC126863158	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 1223132	NM_001429.4(EP300):c.3142+21G>A	EP300, LOC126863158	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186355	NM_001429.4(EP300):c.3142+179del	LOC126863158, EP300	Deletion (intron variant)	not provided	GLikely benign

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Items: 20