"Ambry Genetics"[submitter] AND "SYS1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2369691	NM_033542.4(SYS1):c.8G>C (p.Gly3Ala)	SYS1-DBNDD2, SYS1 (G3A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2235728	NM_033542.4(SYS1):c.461C>T (p.Ser154Phe)	SYS1-DBNDD2, SYS1 (S154F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance

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Items: 21