"GeneDx"[submitter] AND "SMARCA5"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1707054	NM_003601.4(SMARCA5):c.23C>A (p.Pro8Gln)	SMARCA5, SMARCA5-AS1 (P8Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1803328	NM_003601.4(SMARCA5):c.292C>T (p.Gln98Ter)	SMARCA5 (Q98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2446525	NM_003601.4(SMARCA5):c.326C>T (p.Ala109Val)	SMARCA5 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810687	NM_003601.4(SMARCA5):c.506A>G (p.Glu169Gly)	SMARCA5 (E169G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700498	NM_003601.4(SMARCA5):c.622G>A (p.Gly208Ser)	SMARCA5 (G208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573918	NM_003601.4(SMARCA5):c.1159-8_1159-3del	SMARCA5	Deletion (intron variant)	not provided	GUncertain significance
Select item 1804056	NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)	SMARCA5	Deletion (inframe_deletion)	Pubertal developmental failure in females +4 more	GPathogenic
Select item 1804330	NM_003601.4(SMARCA5):c.1378C>T (p.Pro460Ser)	SMARCA5 (P460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363219	NM_003601.4(SMARCA5):c.1588G>A (p.Asp530Asn)	SMARCA5 (D530N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369419	NM_003601.4(SMARCA5):c.1741T>A (p.Trp581Arg)	SMARCA5 (W581R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313258	NM_003601.4(SMARCA5):c.1759C>A (p.Leu587Ile)	SMARCA5 (L587I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136005	NM_003601.4(SMARCA5):c.2016_2018del (p.Glu672del)	SMARCA5 (E672del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3365227	NM_003601.4(SMARCA5):c.2024A>G (p.Asp675Gly)	SMARCA5 (D675G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368036	NM_003601.4(SMARCA5):c.2142C>G (p.Phe714Leu)	SMARCA5 (F714L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310740	NM_003601.4(SMARCA5):c.2207G>A (p.Arg736Gln)	SMARCA5 (R736Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367399	NM_003601.4(SMARCA5):c.2299A>G (p.Lys767Glu)	SMARCA5 (K767E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804057	NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)	SMARCA5 (E893K)	Single nucleotide variant (missense variant)	Hypotonia +4 more	GPathogenic
Select item 2662610	NM_003601.4(SMARCA5):c.2702T>C (p.Met901Thr)	SMARCA5 (M901T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369486	NM_003601.4(SMARCA5):c.2837A>C (p.Asn946Thr)	SMARCA5 (N946T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343752	NM_003601.4(SMARCA5):c.2920C>T (p.Arg974Ter)	SMARCA5 (R974*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3367559	NM_003601.4(SMARCA5):c.3059A>G (p.Lys1020Arg)	SMARCA5 (K1020R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 3360203	NM_003601.4(SMARCA5):c.1978C>A (p.His660Asn)	SMARCA5 (H660N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27