SYS1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 146648	GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3	LOC130065956, LOC130065957 +11 more	Copy number gain	See cases	GBenign
Select item 2560305	NM_033542.4(SYS1):c.5C>A (p.Ala2Glu)	SYS1, SYS1-DBNDD2 (A2E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2549545	NM_033542.4(SYS1):c.5C>T (p.Ala2Val)	SYS1, SYS1-DBNDD2 (A2V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369691	NM_033542.4(SYS1):c.8G>C (p.Gly3Ala)	SYS1, SYS1-DBNDD2 (G3A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172936	NM_033542.4(SYS1):c.11A>T (p.Gln4Leu)	SYS1, SYS1-DBNDD2 (Q4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2315796	NM_033542.4(SYS1):c.19A>T (p.Ser7Cys)	SYS1, SYS1-DBNDD2 (S7C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2309823	NM_033542.4(SYS1):c.22T>C (p.Tyr8His)	SYS1, SYS1-DBNDD2 (Y8H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2652348	NM_033542.4(SYS1):c.100C>T (p.Leu34=)	SYS1, SYS1-DBNDD2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2235330	NM_033542.4(SYS1):c.193C>T (p.Leu65Phe)	SYS1, SYS1-DBNDD2 (L65F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172937	NM_033542.4(SYS1):c.344C>T (p.Ser115Leu)	SYS1, SYS1-DBNDD2 (S115L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652349	NM_033542.4(SYS1):c.345G>A (p.Ser115=)	SYS1, SYS1-DBNDD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3172938	NM_033542.4(SYS1):c.418C>T (p.Arg140Trp)	SYS1, SYS1-DBNDD2 (R140W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523490	NM_033542.4(SYS1):c.422C>T (p.Thr141Met)	SYS1, SYS1-DBNDD2 (T141M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235728	NM_033542.4(SYS1):c.461C>T (p.Ser154Phe)	SYS1, SYS1-DBNDD2 (S154F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311355	NM_014477.3(TP53TG5):c.865T>C (p.Tyr289His)	SYS1, SYS1-DBNDD2 +1 more (Y289H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264842	NM_014477.3(TP53TG5):c.733G>A (p.Ala245Thr)	SYS1, SYS1-DBNDD2 +1 more (A245T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269065	NM_014477.3(TP53TG5):c.712C>T (p.Arg238Cys)	SYS1, SYS1-DBNDD2 +1 more (R238C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394863	NM_014477.3(TP53TG5):c.697C>T (p.Arg233Cys)	SYS1, SYS1-DBNDD2 +1 more (R233C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491999	NM_014477.3(TP53TG5):c.671G>A (p.Arg224Lys)	SYS1, SYS1-DBNDD2 +1 more (R224K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476527	NM_014477.3(TP53TG5):c.650G>A (p.Arg217Gln)	SYS1, SYS1-DBNDD2 +1 more (R217Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278754	NM_014477.3(TP53TG5):c.575A>G (p.Asn192Ser)	SYS1, SYS1-DBNDD2 +1 more (N192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463105	NM_014477.3(TP53TG5):c.553A>G (p.Ile185Val)	SYS1, SYS1-DBNDD2 +1 more (I185V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320187	NM_014477.3(TP53TG5):c.553A>C (p.Ile185Leu)	SYS1, SYS1-DBNDD2 +1 more (I185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592290	NM_014477.3(TP53TG5):c.542G>T (p.Gly181Val)	SYS1, SYS1-DBNDD2 +1 more (G181V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181457	NM_014477.3(TP53TG5):c.488C>T (p.Ser163Leu)	SYS1, SYS1-DBNDD2 +1 more (S163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364320	NM_014477.3(TP53TG5):c.437C>T (p.Ala146Val)	SYS1, SYS1-DBNDD2 +1 more (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495678	NM_014477.3(TP53TG5):c.426A>T (p.Lys142Asn)	SYS1, SYS1-DBNDD2 +1 more (K142N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527378	NM_014477.3(TP53TG5):c.337A>G (p.Lys113Glu)	SYS1, SYS1-DBNDD2 +1 more (K113E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 221547	GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3	DBNDD2, PIGT +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 38