C1303073[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126352	NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln238_Pro239insGlnGlnGlnGlnGlnGln)	SMARCA2	Microsatellite (inframe_insertion +1 more)	Coffin Siris/Intellectual Disability +1 more	GConflicting classifications of pathogenicity
Select item 976071	NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg)	SMARCA2 (K893R +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 982924	NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys)	SMARCA2 (S1019C +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 976144	NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu)	SMARCA2 (D1026E +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 982859	NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)	SMARCA2 (R1047H +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 30010	NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)	SMARCA2 (R1159Q +1 more)	Single nucleotide variant (missense variant)	SMARCA2-related BAFopathy +2 more	GPathogenic/Likely pathogenic
Select item 1679168	NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe)	SMARCA2 (V1111F +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 976221	NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro)	SMARCA2 (Q1142P +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 1285425	NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)	SMARCA2 (T1263M +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 976210	NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu)	SMARCA2 (M130L +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 982825	NM_003070.5(SMARCA2):c.4461+3C>G	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome	GLikely benign