S100PBP[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 1209478	NM_003680.4(YARS1):c.57+269C>G	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271492	NM_003680.4(YARS1):c.57+174C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382756	NM_003680.4(YARS1):c.57+16T>C	S100PBP, YARS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 297163	NM_003680.4(YARS1):c.57+14G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2758561	NM_003680.4(YARS1):c.57+10G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681539	NM_003680.4(YARS1):c.57+10G>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681540	NM_003680.4(YARS1):c.57+4A>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2134126	NM_003680.4(YARS1):c.57+1G>T	S100PBP, YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681541	NM_003680.4(YARS1):c.57+1G>A	S100PBP, YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2531933	NM_003680.4(YARS1):c.55C>A (p.Gln19Lys)	S100PBP, YARS1 (Q19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2099112	NM_003680.4(YARS1):c.54G>T (p.Leu18=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 289456	NM_003680.4(YARS1):c.52C>T (p.Leu18=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1700207	NM_003680.4(YARS1):c.46C>T (p.Arg16Trp)	S100PBP, YARS1 (R16W)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	GLikely pathogenic
Select item 1102663	NM_003680.4(YARS1):c.45C>T (p.Thr15=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GConflicting classifications of pathogenicity
Select item 1681542	NM_003680.4(YARS1):c.44C>A (p.Thr15Asn)	S100PBP, YARS1 (T15N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 3019592	NM_003680.4(YARS1):c.43A>G (p.Thr15Ala)	S100PBP, YARS1 (T15A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681543	NM_003680.4(YARS1):c.42C>T (p.Ile14=)	S100PBP, YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 533457	NM_003680.4(YARS1):c.41T>C (p.Ile14Thr)	S100PBP, YARS1 (I14T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 863098	NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)	S100PBP, YARS1 (I14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1008426	NM_003680.4(YARS1):c.17G>A (p.Ser6Asn)	S100PBP, YARS1 (S6N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 423207	NM_003680.4(YARS1):c.8dup (p.Asp3fs)	S100PBP, YARS1 (D3fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 392635	NM_003680.4(YARS1):c.-28G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 297164	NM_003680.4(YARS1):c.-110G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 874791	NM_003680.3(YARS1):c.-129C>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 874792	NM_003680.3(YARS1):c.-157G>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297165	NM_003680.3(YARS1):c.-167T>A	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 874793	NM_003680.3(YARS1):c.-188G>T	S100PBP, YARS1	Single nucleotide variant (genic upstream transcript variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875721	NM_003680.3(YARS1):c.-245T>C	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875722	NM_003680.3(YARS1):c.-260G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297166	NM_003680.3(YARS1):c.-269C>T	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297167	NM_003680.3(YARS1):c.-283G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297168	NM_003680.3(YARS1):c.-333C>T	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 875723	NM_003680.3(YARS1):c.-415C>T	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297169	NM_003680.3(YARS1):c.-437G>A	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 875724	NM_003680.3(YARS1):c.-441G>C	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297170	NM_003680.3(YARS1):c.-442C>T	S100PBP, YARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297171	NM_003680.3(YARS1):c.-464C>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297172	NM_003680.3(YARS1):c.-539G>T	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297173	NM_003680.3(YARS1):c.-620A>C	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 876718	NM_003680.3(YARS1):c.-623G>A	S100PBP, YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign/Likely benign
Select item 297174	NM_003680.3(YARS1):c.-662G>A	S100PBP, YARS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297175	NM_003680.3(YARS1):c.-683C>T	S100PBP, YARS1 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297176	NM_003680.3(YARS1):c.-738C>G	YARS1, LOC132088696 +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign
Select item 297177	NM_003680.3(YARS1):c.-741C>T	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 873889	NM_003680.3(YARS1):c.-782G>A	LOC132088696, S100PBP +1 more	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2361072	NM_022753.4(S100PBP):c.95A>T (p.Asp32Val)	S100PBP (D32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473500	NM_022753.4(S100PBP):c.118G>A (p.Glu40Lys)	S100PBP (E40K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380321	NM_022753.4(S100PBP):c.160A>T (p.Thr54Ser)	S100PBP (T54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621618	NM_022753.4(S100PBP):c.172A>G (p.Ile58Val)	S100PBP (I58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157411	NM_022753.4(S100PBP):c.218C>T (p.Ser73Phe)	S100PBP (S73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266260	NM_022753.4(S100PBP):c.221G>T (p.Gly74Val)	S100PBP (G74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368035	NM_022753.4(S100PBP):c.232G>A (p.Gly78Ser)	S100PBP (G78S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380881	NM_022753.4(S100PBP):c.287G>A (p.Arg96Gln)	S100PBP (R96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258152	NM_022753.4(S100PBP):c.302C>T (p.Ser101Leu)	S100PBP (S101L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2603277	NM_022753.4(S100PBP):c.365C>T (p.Ser122Leu)	S100PBP (S122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315948	NM_022753.4(S100PBP):c.406C>T (p.Arg136Cys)	S100PBP (R136C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315949	NM_022753.4(S100PBP):c.407G>A (p.Arg136His)	S100PBP (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2615275	NM_022753.4(S100PBP):c.440C>G (p.Thr147Ser)	S100PBP (T147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315951	NM_022753.4(S100PBP):c.446C>G (p.Ala149Gly)	S100PBP (A149G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638615	NM_022753.4(S100PBP):c.489C>T (p.Asp163=)	S100PBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2400903	NM_022753.4(S100PBP):c.500C>T (p.Ser167Leu)	S100PBP (S167L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390840	NM_022753.4(S100PBP):c.572G>A (p.Ser191Asn)	S100PBP (S191N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594298	NM_022753.4(S100PBP):c.577C>G (p.Leu193Val)	S100PBP (L193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157412	NM_022753.4(S100PBP):c.601A>T (p.Ser201Cys)	S100PBP (S201C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358516	NM_022753.4(S100PBP):c.742C>T (p.Pro248Ser)	S100PBP (P248S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157413	NM_022753.4(S100PBP):c.851A>G (p.Asp284Gly)	S100PBP (D284G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157414	NM_022753.4(S100PBP):c.932C>T (p.Pro311Leu)	S100PBP (P311L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411688	NM_022753.4(S100PBP):c.944A>G (p.Gln315Arg)	S100PBP (Q315R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381190	NM_022753.4(S100PBP):c.956A>G (p.Glu319Gly)	S100PBP (E319G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600531	NM_022753.4(S100PBP):c.970C>A (p.Leu324Ile)	S100PBP (L324I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457801	NM_022753.4(S100PBP):c.1020C>G (p.Asn340Lys)	S100PBP (N340K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157410	NM_022753.4(S100PBP):c.1130A>G (p.Gln377Arg)	S100PBP (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315950	NM_022753.4(S100PBP):c.1177A>C (p.Met393Leu)	S100PBP (M393L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315952	NM_022753.4(S100PBP):c.1189C>A (p.His397Asn)	S100PBP (H397N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411203	NM_022753.4(S100PBP):c.1217C>T (p.Ser406Leu)	S100PBP (S406L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685410	GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1	HPCA, AK2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 87