ClinVar for Gene (Select 6503) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371929	NM_003235.5(TG):c.7465C>T (p.Arg2489Cys)	SLA, TG (R2489C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3318755	NM_001045556.3(SLA):c.37G>A (p.Glu13Lys)	SLA, TG (E13K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318754	NM_001045556.3(SLA):c.691G>C (p.Glu231Gln)	SLA, TG (E123Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318752	NM_001045556.3(SLA):c.25C>A (p.Pro9Thr)	SLA, TG (P26T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318751	NM_001045556.3(SLA):c.806C>T (p.Ser269Leu)	SLA, TG (S286L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245518	NC_000008.10:g.(?_133492374)_(134296554_?)dup	CCN4, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 3176622	NM_003235.5(TG):c.7474C>T (p.Pro2492Ser)	SLA, TG (P2492S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176621	NM_003235.5(TG):c.7456C>T (p.His2486Tyr)	SLA, TG (H2486Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176620	NM_003235.5(TG):c.7271T>A (p.Ile2424Asn)	SLA, TG (I2424N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162695	NM_001045556.3(SLA):c.-40-20G>A	SLA, TG (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162694	NM_001045556.3(SLA):c.130C>T (p.Arg44Cys)	SLA, TG (R61C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162693	NM_001045556.3(SLA):c.102G>A (p.Pro34=)	SLA, TG	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3162692	NM_001045556.3(SLA):c.69T>G (p.Asp23Glu)	SLA, TG (D23E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 3022511	NM_003235.5(TG):c.7572+20C>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006209	NM_003235.5(TG):c.7404+17A>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991255	NM_003235.5(TG):c.7240-9C>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983150	NM_003235.5(TG):c.7572+16G>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970523	NM_003235.5(TG):c.7572+13G>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970056	NM_003235.5(TG):c.7512C>T (p.Val2504=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968022	NM_003235.5(TG):c.7572+15G>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967695	NM_003235.5(TG):c.7332_7333del (p.Met2444fs)	SLA, TG (M2444fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2965191	NM_003235.5(TG):c.7240-11T>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962600	NM_003235.5(TG):c.7527G>C (p.Gly2509=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958468	NM_003235.5(TG):c.7479C>A (p.Ala2493=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913293	NM_003235.5(TG):c.7260G>A (p.Pro2420=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907812	NM_003235.5(TG):c.7401C>G (p.Thr2467=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884373	NM_003235.5(TG):c.7464C>T (p.Leu2488=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880665	NM_003235.5(TG):c.7281G>A (p.Glu2427=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864853	NM_003235.5(TG):c.7404+8C>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856506	NM_003235.5(TG):c.7572+16G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847414	NM_003235.5(TG):c.7277del (p.His2426fs)	SLA, TG (H2426fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2847058	NM_003235.5(TG):c.7404+16del	SLA, TG	Deletion (intron variant)	not provided	GLikely benign
Select item 2843240	NM_003235.5(TG):c.7350G>A (p.Val2450=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824031	NM_003235.5(TG):c.7467T>C (p.Arg2489=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820685	NM_003235.5(TG):c.7452T>C (p.Asp2484=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813373	NM_003235.5(TG):c.7437G>A (p.Trp2479Ter)	SLA, TG (W2479*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2809067	NM_003235.5(TG):c.7404+13G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805050	NM_003235.5(TG):c.7254C>T (p.Leu2418=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804894	NM_003235.5(TG):c.7254C>G (p.Leu2418=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793344	NM_003235.5(TG):c.7338C>T (p.Ser2446=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785149	NM_003235.5(TG):c.7335A>G (p.Ser2445=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783413	NM_003235.5(TG):c.7405-16G>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781573	NM_003235.5(TG):c.7405-19A>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768673	NM_003235.5(TG):c.7326C>T (p.Cys2442=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766858	NM_003235.5(TG):c.7572+14G>T	TG, SLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763057	NM_003235.5(TG):c.7404+16C>T	TG, SLA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731627	NM_003235.5(TG):c.7542C>T (p.Asp2514=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2714400	NM_003235.5(TG):c.7405-4G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710858	NM_003235.5(TG):c.7342C>T (p.Gln2448Ter)	SLA, TG (Q2448*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2695363	NM_003235.5(TG):c.7263C>T (p.Ala2421=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693270	NM_003235.5(TG):c.7395C>G (p.Ala2465=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685323	GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	ADCY8, CCN4 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684554	GRCh37/hg19 8q24.22(chr8:134038654-134241503)x3	CCN4, SLA +1 more	Copy number gain	not provided	GUncertain significance
Select item 2658844	NM_001045556.3(SLA):c.-320C>T	SLA, TG (R4W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2658843	NM_003235.5(TG):c.7564G>C (p.Ala2522Pro)	SLA, TG (A2522P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658842	NM_003235.5(TG):c.7249G>A (p.Ala2417Thr)	SLA, TG (A2417T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2621626	NM_003235.5(TG):c.7513G>T (p.Asp2505Tyr)	SLA, TG (D2505Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601500	NM_003235.5(TG):c.7373C>T (p.Pro2458Leu)	SLA, TG (P2458L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588483	NM_001045556.3(SLA):c.689G>A (p.Arg230Gln)	SLA, TG (R247Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2570498	NM_001045556.3(SLA):c.664G>A (p.Glu222Lys)	SLA, TG (E222K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556192	NM_001045556.3(SLA):c.69T>A (p.Asp23Glu)	SLA, TG (D40E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2538712	NM_003235.5(TG):c.7504G>C (p.Val2502Leu)	SLA, TG (V2502L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523182	NM_001045556.3(SLA):c.131G>A (p.Arg44His)	SLA, TG (R61H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468323	NM_001045556.3(SLA):c.118C>T (p.Pro40Ser)	SLA, TG (P57S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425511	NC_000008.10:g.(?_134107268)_(134296554_?)del	CCN4, NDRG1 +2 more	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2400904	NM_003235.5(TG):c.7259C>T (p.Pro2420Leu)	SLA, TG (P2420L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396541	NM_001045556.3(SLA):c.73G>A (p.Asp25Asn)	SLA, TG (D42N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379752	NM_003235.5(TG):c.7457A>T (p.His2486Leu)	SLA, TG (H2486L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349183	NM_003235.5(TG):c.7450G>A (p.Asp2484Asn)	SLA, TG (D2484N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323993	NM_001045556.3(SLA):c.-20C>T	SLA, TG (A11V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2316934	NM_003235.5(TG):c.7556G>C (p.Arg2519Thr)	SLA, TG (R2519T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297870	NM_001045556.3(SLA):c.266T>C (p.Leu89Pro)	SLA, TG (L89P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280974	NM_001045556.3(SLA):c.506G>A (p.Cys169Tyr)	SLA, TG (C186Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280088	NM_001045556.3(SLA):c.700G>A (p.Ala234Thr)	SLA, TG (A126T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271823	NM_001045556.3(SLA):c.54C>A (p.Asn18Lys)	SLA, TG (N35K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254540	NM_001045556.3(SLA):c.-40-35C>T	SLA, TG (R16W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2239687	NM_003235.5(TG):c.7460T>G (p.Phe2487Cys)	SLA, TG (F2487C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238626	NM_003235.5(TG):c.7412C>T (p.Ala2471Val)	SLA, TG (A2471V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223979	NM_003235.5(TG):c.7462C>T (p.Leu2488Phe)	SLA, TG (L2488F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216913	NM_001045556.3(SLA):c.746G>A (p.Arg249Gln)	SLA, TG (R141Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215689	NM_001045556.3(SLA):c.794G>A (p.Ser265Asn)	SLA, TG (S157N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215035	NM_001045556.3(SLA):c.509T>G (p.Val170Gly)	SLA, TG (V170G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1429361	NC_000008.10:g.(?_133141509)_(134296554_?)dup	NDRG1, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 1318900	NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)	SLA, TG (W2501Q)	Inversion (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1318772	NM_003235.5(TG):c.7400C>T (p.Thr2467Ile)	TG, SLA (T2467I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317117	NM_003235.5(TG):c.7450G>T (p.Asp2484Tyr)	SLA, TG (D2484Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283196	NM_003235.5(TG):c.7240-65A>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275950	NM_003235.5(TG):c.7404+166G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248250	NM_003235.5(TG):c.7240-152T>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign

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