"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LINC01569, LINC02861 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 576111	NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)	LOC130058358, LOC130058357 +1 more (M1fs)	Deletion (frameshift variant +1 more)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2698270	NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)	CREBBP, LOC130058357 (A24T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1048115	NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 931686	NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	CREBBP, LOC130058357 (G21D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GConflicting classifications of pathogenicity
Select item 2815334	NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)	CREBBP, LOC130058357 (G21S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2036234	NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)	CREBBP, LOC130058357 (P20L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 859497	NM_004380.3(CREBBP):c.49del (p.Leu17fs)	CREBBP, LOC130058357 (L17fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome	GPathogenic
Select item 2962984	NM_004380.3(CREBBP):c.45C>G (p.Ala15=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1741026	NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)	CREBBP, LOC130058357 (A15G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 949434	NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln)	CREBBP, LOC130058357 (K13Q)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 960417	NM_004380.3(CREBBP):c.36del (p.Arg14fs)	CREBBP, LOC130058357 (R14fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome	GPathogenic