SYS1-DBNDD2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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 3324015	NM_033542.4(SYS1):c.80A>G (p.Tyr27Cys)	SYS1, SYS1-DBNDD2 (Y27C)	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 3328232	NM_014477.3(TP53TG5):c.785C>T (p.Thr262Met)	SYS1, SYS1-DBNDD2 +1 more (T262M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3328230	NM_014477.3(TP53TG5):c.746T>C (p.Met249Thr)	SYS1, SYS1-DBNDD2 +1 more (M249T)	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 3328233	NM_014477.3(TP53TG5):c.677T>C (p.Met226Thr)	SYS1, SYS1-DBNDD2 +1 more (M226T)	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 3328235	NM_014477.3(TP53TG5):c.604C>G (p.Leu202Val)	SYS1, SYS1-DBNDD2 +1 more (L202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328231	NM_014477.3(TP53TG5):c.599A>G (p.Lys200Arg)	SYS1, SYS1-DBNDD2 +1 more (K200R)	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 3328229	NM_014477.3(TP53TG5):c.314G>A (p.Cys105Tyr)	SYS1, SYS1-DBNDD2 +1 more (C105Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320506	NM_014477.3(TP53TG5):c.173G>A (p.Arg58Gln)	SYS1-DBNDD2, TP53TG5 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517328	NM_014477.3(TP53TG5):c.122C>T (p.Thr41Met)	SYS1-DBNDD2, TP53TG5 (T41M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341985	NM_014477.3(TP53TG5):c.113G>A (p.Arg38His)	SYS1-DBNDD2, TP53TG5 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617712	NM_014477.3(TP53TG5):c.85C>G (p.Pro29Ala)	SYS1-DBNDD2, TP53TG5 (P29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524823	NM_014477.3(TP53TG5):c.73G>A (p.Glu25Lys)	SYS1-DBNDD2, TP53TG5 (E25K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080196	NM_018478.3(DBNDD2):c.29T>G (p.Leu10Trp)	DBNDD2, SYS1-DBNDD2 (L10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307665	NM_018478.3(DBNDD2):c.76G>A (p.Ala26Thr)	DBNDD2, SYS1-DBNDD2 (A26T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270926	NM_018478.3(DBNDD2):c.109C>T (p.Leu37Phe)	DBNDD2, SYS1-DBNDD2 (L37F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389884	NM_018478.3(DBNDD2):c.115C>G (p.His39Asp)	DBNDD2, SYS1-DBNDD2 (H39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472906	NM_018478.3(DBNDD2):c.139C>T (p.Arg47Cys)	DBNDD2, SYS1-DBNDD2 (R47C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2570044	NM_018478.3(DBNDD2):c.145C>T (p.Arg49Trp)	DBNDD2, SYS1-DBNDD2 (R49W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2600031	NM_001048225.2(DBNDD2):c.12G>C (p.Trp4Cys)	DBNDD2, SYS1-DBNDD2 (W4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216740	NM_001048225.2(DBNDD2):c.83G>A (p.Ser28Asn)	DBNDD2, SYS1-DBNDD2 (S28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461582	NM_001048225.4(DBNDD2):c.-146C>T	DBNDD2, SYS1-DBNDD2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080195	NM_001048225.4(DBNDD2):c.-15C>A	DBNDD2, SYS1-DBNDD2 (P94T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2394856	NM_001048225.4(DBNDD2):c.-5C>A	DBNDD2, SYS1-DBNDD2 (A97D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2546475	NM_001048225.4(DBNDD2):c.55C>T (p.Arg19Trp)	DBNDD2, SYS1-DBNDD2 (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411742	NM_001048225.4(DBNDD2):c.281T>C (p.Met94Thr)	DBNDD2, SYS1-DBNDD2 (M94T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512962	NM_001048225.4(DBNDD2):c.302T>C (p.Leu101Pro)	DBNDD2, SYS1-DBNDD2 (L199P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080197	NM_001048225.4(DBNDD2):c.325G>A (p.Asp109Asn)	DBNDD2, SYS1-DBNDD2 (D109N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080198	NM_001048225.4(DBNDD2):c.344C>A (p.Thr115Asn)	DBNDD2, SYS1-DBNDD2 (T115N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216431	NM_001048225.4(DBNDD2):c.364G>T (p.Asp122Tyr)	DBNDD2, SYS1-DBNDD2 (D122Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216432	NM_001048225.4(DBNDD2):c.365A>C (p.Asp122Ala)	DBNDD2, SYS1-DBNDD2 (D122A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305253	NM_001048225.4(DBNDD2):c.378C>A (p.Asn126Lys)	DBNDD2, SYS1-DBNDD2 (N224K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623227	NM_001048225.4(DBNDD2):c.431C>T (p.Ser144Leu)	DBNDD2, SYS1-DBNDD2 (S242L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223820	NM_001048225.4(DBNDD2):c.473G>C (p.Gly158Ala)	DBNDD2, SYS1-DBNDD2 (G256A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 64