SNAPC2[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2543554	NM_003083.4(SNAPC2):c.11C>G (p.Pro4Arg)	SNAPC2 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321124	NM_003083.4(SNAPC2):c.28G>T (p.Ala10Ser)	LOC130063398, SNAPC2 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321125	NM_003083.4(SNAPC2):c.29C>T (p.Ala10Val)	LOC130063398, SNAPC2 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248195	NM_003083.4(SNAPC2):c.31C>T (p.Pro11Ser)	LOC130063398, SNAPC2 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220249	NM_003083.4(SNAPC2):c.37C>T (p.Arg13Cys)	LOC130063398, SNAPC2 (R13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523548	NM_003083.4(SNAPC2):c.49G>A (p.Glu17Lys)	LOC130063398, SNAPC2 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307210	NM_003083.4(SNAPC2):c.59G>C (p.Gly20Ala)	LOC130063398, SNAPC2 (G20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463844	NM_003083.4(SNAPC2):c.133C>A (p.Pro45Thr)	LOC130063398, SNAPC2 (P45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339614	NM_003083.4(SNAPC2):c.159G>C (p.Glu53Asp)	LOC130063398, SNAPC2 (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321167	NM_003083.4(SNAPC2):c.169C>G (p.Arg57Gly)	LOC130063398, SNAPC2 (R57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347503	NM_003083.4(SNAPC2):c.170G>C (p.Arg57Pro)	LOC130063398, SNAPC2 (R57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496052	NM_003083.4(SNAPC2):c.172A>G (p.Ser58Gly)	LOC130063398, SNAPC2 (S58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509351	NM_003083.4(SNAPC2):c.235C>A (p.Gln79Lys)	SNAPC2 (Q79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321126	NM_003083.4(SNAPC2):c.245A>C (p.His82Pro)	SNAPC2 (H82P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212828	NM_003083.4(SNAPC2):c.277G>A (p.Glu93Lys)	SNAPC2 (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223815	NM_003083.4(SNAPC2):c.298A>G (p.Ile100Val)	SNAPC2 (I100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353057	NM_003083.4(SNAPC2):c.310A>G (p.Thr104Ala)	SNAPC2 (T104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515337	NM_003083.4(SNAPC2):c.362C>T (p.Ala121Val)	SNAPC2 (A121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166888	NM_003083.4(SNAPC2):c.414C>G (p.His138Gln)	SNAPC2 (H138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235198	NM_003083.4(SNAPC2):c.421C>T (p.Pro141Ser)	SNAPC2 (P141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321127	NM_003083.4(SNAPC2):c.424C>G (p.Pro142Ala)	SNAPC2 (P142A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166889	NM_003083.4(SNAPC2):c.425C>G (p.Pro142Arg)	SNAPC2 (P142R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166890	NM_003083.4(SNAPC2):c.440C>A (p.Ala147Asp)	SNAPC2 (A147D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321123	NM_003083.4(SNAPC2):c.466G>C (p.Ala156Pro)	SNAPC2 (A156P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227918	NM_003083.4(SNAPC2):c.529T>C (p.Ser177Pro)	SNAPC2 (S177P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376645	NM_003083.4(SNAPC2):c.544C>T (p.Pro182Ser)	SNAPC2 (P182S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3166891	NM_003083.4(SNAPC2):c.548A>C (p.Asp183Ala)	SNAPC2 (D183A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166893	NM_003083.4(SNAPC2):c.554C>T (p.Ala185Val)	SNAPC2 (A185V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559114	NM_003083.4(SNAPC2):c.554C>A (p.Ala185Asp)	SNAPC2 (A185D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166894	NM_003083.4(SNAPC2):c.578C>G (p.Ser193Trp)	SNAPC2 (S193W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467323	NM_003083.4(SNAPC2):c.578C>T (p.Ser193Leu)	SNAPC2 (S193L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2292115	NM_003083.4(SNAPC2):c.590C>T (p.Ser197Phe)	SNAPC2 (S197F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321122	NM_003083.4(SNAPC2):c.600A>C (p.Glu200Asp)	SNAPC2 (E200D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301587	NM_003083.4(SNAPC2):c.661C>T (p.Arg221Cys)	SNAPC2 (R221C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594871	NM_003083.4(SNAPC2):c.691G>A (p.Ala231Thr)	SNAPC2 (A231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261292	NM_003083.4(SNAPC2):c.751G>C (p.Ala251Pro)	SNAPC2 (A251P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602183	NM_003083.4(SNAPC2):c.764A>G (p.His255Arg)	SNAPC2 (H255R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478801	NM_003083.4(SNAPC2):c.772G>C (p.Glu258Gln)	SNAPC2 (E258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253398	NM_003083.4(SNAPC2):c.774G>C (p.Glu258Asp)	SNAPC2 (E258D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595036	NM_003083.4(SNAPC2):c.808C>T (p.Pro270Ser)	SNAPC2 (P270S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478382	NM_003083.4(SNAPC2):c.815G>C (p.Gly272Ala)	SNAPC2 (G272A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467233	NM_003083.4(SNAPC2):c.877C>T (p.Pro293Ser)	SNAPC2 (P293S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457837	NM_003083.4(SNAPC2):c.878C>T (p.Pro293Leu)	SNAPC2 (P293L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2364539	NM_003083.4(SNAPC2):c.880C>G (p.Pro294Ala)	SNAPC2 (P294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605879	NM_003083.4(SNAPC2):c.919C>T (p.Pro307Ser)	SNAPC2 (P307S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 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: 54