SAE1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 2599679	NM_005500.3(SAE1):c.31A>G (p.Ile11Val)	SAE1 (I11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279179	NM_005500.3(SAE1):c.80G>A (p.Gly27Glu)	SAE1 (G27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650142	NM_005500.3(SAE1):c.127G>A (p.Gly43Ser)	SAE1 (G43S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3157487	NM_005500.3(SAE1):c.167T>G (p.Ile56Ser)	SAE1 (I56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261414	NM_005500.3(SAE1):c.251C>A (p.Thr84Asn)	SAE1 (T84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508693	NM_005500.3(SAE1):c.266G>A (p.Arg89Gln)	SAE1 (R89Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157488	NM_005500.3(SAE1):c.271A>G (p.Arg91Gly)	SAE1 (R91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157489	NM_005500.3(SAE1):c.332A>G (p.Asp111Gly)	SAE1 (D111G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386544	NM_005500.3(SAE1):c.349A>G (p.Lys117Glu)	SAE1 (K117E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316000	NM_005500.3(SAE1):c.383C>G (p.Ala128Gly)	SAE1 (A128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316001	NM_005500.3(SAE1):c.538A>G (p.Lys180Glu)	SAE1 (K180E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315999	NM_005500.3(SAE1):c.681G>C (p.Glu227Asp)	SAE1 (E227D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 778848	NM_005500.3(SAE1):c.786T>C (p.Tyr262=)	SAE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3157490	NM_005500.3(SAE1):c.799G>C (p.Glu267Gln)	SAE1 (E267Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157491	NM_005500.3(SAE1):c.895A>G (p.Met299Val)	SAE1 (M299V)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3157492	NM_005500.3(SAE1):c.940A>G (p.Ile314Val)	SAE1 (I314V)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2240460	NM_005500.3(SAE1):c.980A>G (p.Asn327Ser)	SAE1 (N327S)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2534982	NM_005500.3(SAE1):c.997G>A (p.Gly333Ser)	SAE1 (G333S +1 more)	Single nucleotide variant (nonsense +3 more)	not specified	GUncertain significance
Select item 2650143	NM_005500.3(SAE1):c.*27G>A	SAE1 (A285T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 394131	GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	BBC3, C5AR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 35