9893[HGNC] - ClinVar

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Items: 59

	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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 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 2295130	NM_002895.5(RBL1):c.3161T>C (p.Leu1054Ser)	RBL1 (L1054S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313141	NM_002895.5(RBL1):c.3134G>A (p.Arg1045His)	RBL1 (R1045H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729290	NM_002895.5(RBL1):c.2745A>T (p.Thr915=)	RBL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252064	NM_002895.5(RBL1):c.2671G>T (p.Val891Phe)	RBL1 (V464F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605486	NM_002895.5(RBL1):c.2593A>T (p.Met865Leu)	RBL1 (M438L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456715	NM_002895.5(RBL1):c.2560G>A (p.Val854Ile)	RBL1 (V854I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277011	NM_002895.5(RBL1):c.2473G>A (p.Glu825Lys)	RBL1 (E825K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152131	NM_002895.5(RBL1):c.2461T>C (p.Trp821Arg)	RBL1 (W821R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313140	NM_002895.5(RBL1):c.2396C>A (p.Ala799Glu)	RBL1 (A372E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313142	NM_002895.5(RBL1):c.2306C>T (p.Thr769Ile)	RBL1 (T769I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152129	NM_002895.5(RBL1):c.2212T>G (p.Ser738Ala)	RBL1 (S311A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611535	NM_002895.5(RBL1):c.2192A>C (p.Glu731Ala)	RBL1 (E731A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152128	NM_002895.5(RBL1):c.2182G>A (p.Asp728Asn)	RBL1 (D301N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729291	NM_002895.5(RBL1):c.2170+6G>A	RBL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3152127	NM_002895.5(RBL1):c.2158A>G (p.Ile720Val)	RBL1 (I720V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521498	NM_002895.5(RBL1):c.2144G>A (p.Gly715Glu)	RBL1 (G715E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490714	NM_002895.5(RBL1):c.2122G>A (p.Ala708Thr)	RBL1 (A281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401277	NM_002895.5(RBL1):c.2033G>A (p.Gly678Glu)	RBL1 (G251E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261091	NM_002895.5(RBL1):c.1898G>A (p.Arg633Gln)	RBL1 (R633Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341549	NM_002895.5(RBL1):c.1840A>G (p.Met614Val)	RBL1 (M187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313145	NM_002895.5(RBL1):c.1829C>T (p.Pro610Leu)	RBL1 (P610L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467896	NM_002895.5(RBL1):c.1792G>A (p.Glu598Lys)	RBL1 (E171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524153	NM_002895.5(RBL1):c.1756C>T (p.Pro586Ser)	RBL1 (P586S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152126	NM_002895.5(RBL1):c.1738G>T (p.Val580Phe)	RBL1 (V153F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313143	NM_002895.5(RBL1):c.1725G>C (p.Trp575Cys)	RBL1 (W148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218140	NM_002895.5(RBL1):c.1652T>C (p.Met551Thr)	RBL1 (M551T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349804	NM_002895.5(RBL1):c.1587A>C (p.Gln529His)	RBL1 (Q529H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721599	NM_002895.5(RBL1):c.1559C>G (p.Pro520Arg)	RBL1 (P93R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3152125	NM_002895.5(RBL1):c.1508C>T (p.Ala503Val)	RBL1 (A76V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343819	NM_002895.5(RBL1):c.1495C>T (p.Arg499Cys)	RBL1 (R499C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460776	NM_002895.5(RBL1):c.1487T>A (p.Ile496Lys)	RBL1 (I69K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152124	NM_002895.5(RBL1):c.1285A>G (p.Lys429Glu)	RBL1 (K2E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152123	NM_002895.5(RBL1):c.1262G>A (p.Arg421His)	RBL1 (R421H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241647	NM_002895.5(RBL1):c.1060A>G (p.Asn354Asp)	RBL1 (N354D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302334	NM_002895.5(RBL1):c.976G>A (p.Ala326Thr)	RBL1 (A326T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313144	NM_002895.5(RBL1):c.975C>G (p.Asp325Glu)	RBL1 (D325E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348359	NM_002895.5(RBL1):c.881G>C (p.Ser294Thr)	RBL1 (S294T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2247219	NM_002895.5(RBL1):c.871G>A (p.Asp291Asn)	RBL1 (D291N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592946	NM_002895.5(RBL1):c.727G>A (p.Glu243Lys)	RBL1 (E243K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251595	NM_002895.5(RBL1):c.686G>T (p.Gly229Val)	RBL1 (G229V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239727	NM_002895.5(RBL1):c.566G>A (p.Arg189Gln)	RBL1 (R189Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263840	NM_002895.5(RBL1):c.452A>G (p.Tyr151Cys)	RBL1 (Y151C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592281	NM_002895.5(RBL1):c.436A>G (p.Ile146Val)	RBL1 (I146V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313139	NM_002895.5(RBL1):c.430T>G (p.Leu144Val)	RBL1 (L144V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618479	NM_002895.5(RBL1):c.422C>T (p.Pro141Leu)	RBL1 (P141L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152130	NM_002895.5(RBL1):c.232G>T (p.Gly78Cys)	RBL1 (G78C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464172	NM_002895.5(RBL1):c.209G>T (p.Ser70Ile)	RBL1 (S70I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538157	NM_002895.5(RBL1):c.146A>G (p.Tyr49Cys)	RBL1 (Y49C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548370	NM_002895.5(RBL1):c.145T>C (p.Tyr49His)	RBL1 (Y49H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547970	NM_002895.5(RBL1):c.128C>T (p.Thr43Ile)	RBL1 (T43I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233368	NM_002895.5(RBL1):c.113C>T (p.Ala38Val)	RBL1 (A38V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2275352	NM_002895.5(RBL1):c.21C>A (p.His7Gln)	RBL1 (H7Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 59