C3714756[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027657	NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)	DNMT3A (R143*)	Single nucleotide variant (nonsense +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 1183968	NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs)	CKAP2L (T323fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability +1 more	GLikely pathogenic
Select item 560385	NM_016648.4(LARP7):c.1669-1_1671del	LARP7	Deletion (splice acceptor variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 1027659	NM_005458.8(GABBR2):c.2413-3T>C	GABBR2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 1027655	NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)	STXBP1 (I404del +3 more)	Microsatellite (inframe_deletion)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 1027663	NM_012309.5(SHANK2):c.2439+1G>A	SHANK2	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 17	GLikely pathogenic
Select item 560380	NM_001197104.2(KMT2A):c.766dup (p.Ile256fs)	KMT2A (I256fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 241045	NM_015335.5(MED13L):c.6068-8C>T	MED13L	Single nucleotide variant (intron variant)	Transposition of the great arteries, dextro-looped +1 more	GBenign/Likely benign
Select item 1027656	NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)	ANKRD11 (R1519fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic