SYNC[gene] - ClinVar

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

Search results

Items: 45

	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 3172662	NM_030786.3(SYNC):c.1387C>G (p.Gln463Glu)	RBBP4, SYNC (Q463E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2306637	NM_030786.3(SYNC):c.1336G>A (p.Ala446Thr)	RBBP4, SYNC (A446T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487930	NM_030786.3(SYNC):c.1292A>G (p.Gln431Arg)	RBBP4, SYNC (Q431R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474640	NM_030786.3(SYNC):c.1192C>T (p.Leu398Phe)	SYNC (L398F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323888	NM_030786.3(SYNC):c.1180G>A (p.Asp394Asn)	SYNC (D394N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297726	NM_030786.3(SYNC):c.1156C>T (p.Arg386Cys)	SYNC (R386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464080	NM_030786.3(SYNC):c.1144G>A (p.Ala382Thr)	SYNC (A382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172661	NM_030786.3(SYNC):c.1097C>G (p.Ala366Gly)	SYNC (A366G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049054	NM_030786.3(SYNC):c.1012G>A (p.Asp338Asn)	SYNC (D338N)	Single nucleotide variant (missense variant)	SYNC-related disorder	GLikely benign
Select item 3172660	NM_030786.3(SYNC):c.1007G>A (p.Arg336His)	SYNC (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210584	NM_030786.3(SYNC):c.968G>A (p.Arg323Gln)	SYNC (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323890	NM_030786.3(SYNC):c.961A>G (p.Ser321Gly)	SYNC (S321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344047	NM_030786.3(SYNC):c.951T>A (p.Phe317Leu)	SYNC (F317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210266	NM_030786.3(SYNC):c.908G>A (p.Arg303Gln)	SYNC (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172665	NM_030786.3(SYNC):c.802G>A (p.Ala268Thr)	SYNC (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464636	NM_030786.3(SYNC):c.757T>C (p.Cys253Arg)	SYNC (C253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255468	NM_030786.3(SYNC):c.580G>T (p.Asp194Tyr)	SYNC (D194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323889	NM_030786.3(SYNC):c.573G>C (p.Glu191Asp)	SYNC (E191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638610	NM_030786.3(SYNC):c.540G>A (p.Gln180=)	SYNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215980	NM_030786.3(SYNC):c.439G>A (p.Glu147Lys)	SYNC (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473208	NM_030786.3(SYNC):c.437C>T (p.Ala146Val)	SYNC (A146V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459367	NM_030786.3(SYNC):c.421G>C (p.Glu141Gln)	SYNC (E141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468172	NM_030786.3(SYNC):c.418G>A (p.Gly140Arg)	SYNC (G140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554218	NM_030786.3(SYNC):c.413A>T (p.Tyr138Phe)	SYNC (Y138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285037	NM_030786.3(SYNC):c.406G>T (p.Val136Phe)	SYNC (V136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172663	NM_030786.3(SYNC):c.350G>A (p.Arg117Gln)	SYNC (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617202	NM_030786.3(SYNC):c.316A>G (p.Thr106Ala)	SYNC (T106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403147	NM_030786.3(SYNC):c.292G>C (p.Glu98Gln)	SYNC (E98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612677	NM_030786.3(SYNC):c.268C>A (p.Gln90Lys)	SYNC (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378775	NM_030786.3(SYNC):c.179A>G (p.Tyr60Cys)	SYNC (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323891	NM_030786.3(SYNC):c.169G>A (p.Asp57Asn)	SYNC (D57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484078	NM_030786.3(SYNC):c.110A>C (p.Glu37Ala)	SYNC (E37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468370	NM_030786.3(SYNC):c.64G>T (p.Val22Leu)	SYNC (V22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476574	NM_030786.3(SYNC):c.38C>G (p.Ala13Gly)	SYNC (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172664	NM_030786.3(SYNC):c.37G>A (p.Ala13Thr)	SYNC (A13T)	Single nucleotide variant (missense variant)	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45