SYN3[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172651	NM_003490.4(SYN3):c.1702C>T (p.Arg568Cys)	SYN3 (R567C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477547	NM_003490.4(SYN3):c.1679A>C (p.Asp560Ala)	SYN3 (D559A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372592	NM_003490.4(SYN3):c.1667C>A (p.Thr556Asn)	SYN3 (T556N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790898	NM_003490.4(SYN3):c.1573G>C (p.Glu525Gln)	SYN3 (E524Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2256151	NM_003490.4(SYN3):c.1547G>T (p.Gly516Val)	SYN3 (G516V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218279	NM_003490.4(SYN3):c.1468G>A (p.Ala490Thr)	SYN3 (A490T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375384	NM_003490.4(SYN3):c.1444_1445delinsTT (p.Pro482Leu)	SYN3 (P481L +1 more)	Indel (missense variant +1 more)	Generalized hypotonia +4 more	GPathogenic
Select item 731016	NM_003490.4(SYN3):c.1431G>T (p.Gln477His)	SYN3 (Q476H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2345179	NM_003490.4(SYN3):c.1420G>A (p.Gly474Arg)	SYN3 (G473R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263283	NM_003490.4(SYN3):c.1420G>C (p.Gly474Arg)	SYN3 (G474R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323885	NM_003490.4(SYN3):c.1418C>G (p.Ser473Cys)	SYN3 (S472C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785839	NM_003490.4(SYN3):c.1328G>A (p.Arg443His)	SYN3 (R443H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 758651	NM_003490.4(SYN3):c.1314G>A (p.Pro438=)	SYN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208000	NM_003490.4(SYN3):c.1303C>T (p.Arg435Cys)	SYN3 (R434C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100827	NM_003490.4(SYN3):c.1250C>T (p.Ala417Val)	SYN3 (A416V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295373	NM_003490.4(SYN3):c.1208C>T (p.Ala403Val)	SYN3 (A403V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 752320	NM_003490.4(SYN3):c.1152G>A (p.Leu384=)	SYN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3323886	NM_003490.4(SYN3):c.1123G>C (p.Gly375Arg)	SYN3 (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532257	NM_003490.4(SYN3):c.1072G>A (p.Asp358Asn)	SYN3 (D357N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172659	NM_003490.4(SYN3):c.979G>A (p.Ala327Thr)	SYN3 (A326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510670	NM_003490.4(SYN3):c.899C>A (p.Ser300Tyr)	SYN3 (S299Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172658	NM_003490.4(SYN3):c.841G>A (p.Ala281Thr)	SYN3 (A280T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742044	NM_003490.4(SYN3):c.829G>A (p.Ala277Thr)	SYN3 (A276T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3172657	NM_003490.4(SYN3):c.817G>A (p.Val273Met)	SYN3 (V272M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307353	NM_003490.4(SYN3):c.815G>A (p.Ser272Asn)	SYN3 (S271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357066	NM_003490.4(SYN3):c.760G>A (p.Ala254Thr)	SYN3 (A253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251805	NM_003490.4(SYN3):c.646C>T (p.His216Tyr)	SYN3 (H215Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475832	NM_003490.4(SYN3):c.643T>A (p.Phe215Ile)	SYN3 (F214I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172656	NM_003490.4(SYN3):c.583C>T (p.Leu195Phe)	SYN3 (L194F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172655	NM_003490.4(SYN3):c.529T>C (p.Tyr177His)	SYN3 (Y177H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172654	NM_003490.4(SYN3):c.526G>A (p.Asp176Asn)	SYN3 (D176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247557	NM_003490.4(SYN3):c.484A>G (p.Ile162Val)	SYN3 (I162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172653	NM_003490.4(SYN3):c.457G>A (p.Val153Met)	SYN3 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358884	NM_003490.4(SYN3):c.436G>A (p.Val146Met)	SYN3 (V146M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295734	NM_003490.4(SYN3):c.371C>T (p.Ala124Val)	SYN3 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355378	NM_003490.4(SYN3):c.367C>A (p.Gln123Lys)	SYN3 (Q123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591487	NM_003490.4(SYN3):c.355A>G (p.Ile119Val)	SYN3 (I119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266414	NM_003490.4(SYN3):c.326A>G (p.His109Arg)	SYN3 (H109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172652	NM_003490.4(SYN3):c.289A>G (p.Ile97Val)	SYN3 (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467424	NM_003490.4(SYN3):c.254C>T (p.Thr85Met)	SYN3 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782071	NM_003490.4(SYN3):c.144G>T (p.Leu48=)	SYN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748722	NM_003490.4(SYN3):c.132C>T (p.His44=)	SYN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361144	NM_003490.4(SYN3):c.68C>A (p.Thr23Lys)	SYN3 (T23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731472	NM_003490.4(SYN3):c.68C>T (p.Thr23Met)	SYN3 (T23M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3323887	NM_003490.4(SYN3):c.20G>A (p.Arg7His)	SYN3 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612165	NM_003490.4(SYN3):c.14G>T (p.Arg5Leu)	SYN3 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221057	NM_003490.4(SYN3):c.4A>G (p.Asn2Asp)	SYN3 (N2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062456	GRCh37/hg19 22q12.3(chr22:33289750-33383563)x1	SYN3	Copy number loss	not specified	GUncertain significance
Select item 1808853	GRCh37/hg19 22q12.3(chr22:33101137-33191344)x1	SYN3	Copy number loss	not provided	GUncertain significance

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: 49