SPATS2[gene] - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2493692	NM_023071.4(SPATS2):c.43T>G (p.Phe15Val)	SPATS2 (F15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471500	NM_023071.4(SPATS2):c.61A>G (p.Thr21Ala)	SPATS2 (T21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787394	NM_023071.4(SPATS2):c.64G>A (p.Val22Ile)	SPATS2 (V22I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2548290	NM_023071.4(SPATS2):c.74A>G (p.Gln25Arg)	SPATS2 (Q25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508165	NM_023071.4(SPATS2):c.113C>T (p.Ala38Val)	SPATS2 (A38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308930	NM_023071.4(SPATS2):c.115G>A (p.Val39Ile)	SPATS2 (V39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322024	NM_023071.4(SPATS2):c.140G>A (p.Ser47Asn)	SPATS2 (S47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247392	NM_023071.4(SPATS2):c.287C>T (p.Pro96Leu)	SPATS2 (P96L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322021	NM_023071.4(SPATS2):c.298G>A (p.Ala100Thr)	SPATS2 (A100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517165	NM_023071.4(SPATS2):c.416A>G (p.Asn139Ser)	SPATS2 (N139S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603549	NM_023071.4(SPATS2):c.452T>G (p.Leu151Trp)	SPATS2 (L151W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322023	NM_023071.4(SPATS2):c.512C>T (p.Thr171Met)	SPATS2 (T171M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220883	NM_023071.4(SPATS2):c.540G>C (p.Gln180His)	SPATS2 (Q180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168678	NM_023071.4(SPATS2):c.605C>G (p.Pro202Arg)	SPATS2 (P202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249470	NM_023071.4(SPATS2):c.674A>C (p.Asp225Ala)	SPATS2 (D225A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168680	NM_023071.4(SPATS2):c.721T>C (p.Ser241Pro)	SPATS2 (S241P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168681	NM_023071.4(SPATS2):c.757G>A (p.Ala253Thr)	SPATS2 (A253T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598006	NM_023071.4(SPATS2):c.787A>G (p.Met263Val)	SPATS2 (M263V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515141	NM_023071.4(SPATS2):c.788T>C (p.Met263Thr)	SPATS2 (M263T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359107	NM_023071.4(SPATS2):c.860C>T (p.Ala287Val)	SPATS2 (A287V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235620	NM_023071.4(SPATS2):c.910C>T (p.Leu304Phe)	SPATS2 (L304F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168676	NM_023071.4(SPATS2):c.1079C>A (p.Thr360Asn)	SPATS2 (T360N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456932	NM_023071.4(SPATS2):c.1100C>T (p.Ser367Leu)	SPATS2 (S367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322022	NM_023071.4(SPATS2):c.1181G>C (p.Ser394Thr)	SPATS2 (S394T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295412	NM_023071.4(SPATS2):c.1211C>A (p.Ser404Tyr)	SPATS2 (S404Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375187	NM_023071.4(SPATS2):c.1248C>A (p.Asn416Lys)	SPATS2 (N416K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322019	NM_023071.4(SPATS2):c.1385A>G (p.Asn462Ser)	SPATS2 (N462S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507604	NM_023071.4(SPATS2):c.1405C>T (p.Arg469Trp)	SPATS2 (R469W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212220	NM_023071.4(SPATS2):c.1423C>T (p.Arg475Cys)	SPATS2 (R475C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395996	NM_023071.4(SPATS2):c.1445A>G (p.Tyr482Cys)	SPATS2 (Y482C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524844	NM_023071.4(SPATS2):c.1500T>G (p.Ile500Met)	SPATS2 (I500M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322020	NM_023071.4(SPATS2):c.1528A>G (p.Thr510Ala)	SPATS2 (T510A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 979966	GRCh37/hg19 12q13.12(chr12:49584942-49910016)x3	PRPH, DNAJC22 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 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: 41