SLA[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 164

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
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 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 155462	GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3	CCN4, LINC03024 +39 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1248250	NM_003235.5(TG):c.7240-152T>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283196	NM_003235.5(TG):c.7240-65A>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965191	NM_003235.5(TG):c.7240-11T>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 911338	NM_003235.5(TG):c.7248C>T (p.Ser2416=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	Iodotyrosyl coupling defect +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 361993	NM_003235.5(TG):c.7264G>A (p.Ala2422Thr)	SLA, TG (A2422T)	Single nucleotide variant (missense variant +1 more)	Iodotyrosyl coupling defect +1 more	GBenign
Select item 728008	NM_003235.5(TG):c.7266C>T (p.Ala2422=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2847414	NM_003235.5(TG):c.7277del (p.His2426fs)	SLA, TG (H2426fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 2967695	NM_003235.5(TG):c.7332_7333del (p.Met2444fs)	SLA, TG (M2444fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 762945	NM_003235.5(TG):c.7335A>T (p.Ser2445=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	Iodotyrosyl coupling defect +1 more	GConflicting classifications of pathogenicity
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 2710858	NM_003235.5(TG):c.7342C>T (p.Gln2448Ter)	SLA, TG (Q2448*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 908349	NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)	TG, SLA (R2455C)	Single nucleotide variant (missense variant +1 more)	Iodotyrosyl coupling defect +2 more	GUncertain significance
Select item 737320	NM_003235.5(TG):c.7364G>A (p.Arg2455His)	SLA, TG (R2455H)	Single nucleotide variant (missense variant +1 more)	Iodotyrosyl coupling defect +1 more	GConflicting classifications of pathogenicity
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 1073984	NM_003235.5(TG):c.7396dup (p.Gln2466fs)	SLA, TG (Q2466fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 437000	NM_003235.5(TG):c.7396C>G (p.Gln2466Glu)	SLA, TG (Q2466E)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2864853	NM_003235.5(TG):c.7404+8C>T	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809067	NM_003235.5(TG):c.7404+13G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847058	NM_003235.5(TG):c.7404+16del	SLA, TG	Deletion (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 3006209	NM_003235.5(TG):c.7404+17A>G	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275950	NM_003235.5(TG):c.7404+166G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182685	NM_003235.5(TG):c.7404+292C>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2781573	NM_003235.5(TG):c.7405-19A>G	SLA, TG	Single nucleotide variant (intron variant)	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 908350	NM_003235.5(TG):c.7405-9C>T	SLA, TG	Single nucleotide variant (intron variant)	Iodotyrosyl coupling defect	GUncertain significance
Select item 2714400	NM_003235.5(TG):c.7405-4G>A	SLA, TG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259000	NM_003235.5(TG):c.7408C>T (p.Leu2470=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 733906	NM_003235.5(TG):c.7413C>T (p.Ala2471=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 908351	NM_003235.5(TG):c.7414G>A (p.Val2472Met)	SLA, TG (V2472M)	Single nucleotide variant (missense variant +1 more)	Iodotyrosyl coupling defect	GUncertain significance
Select item 768264	NM_003235.5(TG):c.7414G>C (p.Val2472Leu)	SLA, TG (V2472L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely 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 723387	NM_003235.5(TG):c.7449C>T (p.Ile2483=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2820685	NM_003235.5(TG):c.7452T>C (p.Asp2484=)	SLA, TG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 2