SLC6A15[gene] - ClinVar

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

Search results

Items: 42

	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 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 151768	GRCh38/hg38 12q21.31(chr12:84308104-84929814)x4	SLC6A15	Copy number gain	See cases	GLikely benign
Select item 3165392	NM_182767.6(SLC6A15):c.2165T>C (p.Met722Thr)	SLC6A15 (M722T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281997	NM_182767.6(SLC6A15):c.2108C>T (p.Thr703Ile)	SLC6A15 (T596I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165391	NM_182767.6(SLC6A15):c.2049C>A (p.Ser683Arg)	SLC6A15 (S576R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412461	NM_182767.6(SLC6A15):c.1997C>G (p.Pro666Arg)	SLC6A15 (P666R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244489	NM_182767.6(SLC6A15):c.1931T>A (p.Leu644His)	SLC6A15 (L644H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165390	NM_182767.6(SLC6A15):c.1919G>A (p.Arg640His)	SLC6A15 (R533H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320121	NM_182767.6(SLC6A15):c.1715T>C (p.Met572Thr)	SLC6A15 (M572T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769827	NM_182767.6(SLC6A15):c.1668C>T (p.Asp556=)	SLC6A15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165389	NM_182767.6(SLC6A15):c.1664A>G (p.Glu555Gly)	SLC6A15 (E448G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320125	NM_182767.6(SLC6A15):c.1654A>G (p.Lys552Glu)	SLC6A15 (K445E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475699	NM_182767.6(SLC6A15):c.1625T>C (p.Ile542Thr)	SLC6A15 (I542T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238888	NM_182767.6(SLC6A15):c.1567A>T (p.Met523Leu)	SLC6A15 (M416L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234971	NM_182767.6(SLC6A15):c.1363G>A (p.Ala455Thr)	SLC6A15 (A348T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247232	NM_182767.6(SLC6A15):c.1346C>T (p.Ala449Val)	SLC6A15 (A342V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320122	NM_182767.6(SLC6A15):c.1340C>T (p.Thr447Ile)	SLC6A15 (T163I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320126	NM_182767.6(SLC6A15):c.1303G>A (p.Ala435Thr)	SLC6A15 (A151T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714541	NM_182767.6(SLC6A15):c.1209T>C (p.Tyr403=)	SLC6A15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306869	NM_182767.6(SLC6A15):c.1134T>G (p.Phe378Leu)	SLC6A15 (F271L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320124	NM_182767.6(SLC6A15):c.1126A>G (p.Met376Val)	SLC6A15 (M269V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616328	NM_182767.6(SLC6A15):c.937G>C (p.Gly313Arg)	SLC6A15 (G29R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319461	NM_182767.6(SLC6A15):c.857T>G (p.Phe286Cys)	SLC6A15 (F179C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320123	NM_182767.6(SLC6A15):c.853A>C (p.Met285Leu)	SLC6A15 (M178L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341315	NM_182767.6(SLC6A15):c.836T>C (p.Ile279Thr)	SLC6A15 (I172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165393	NM_182767.6(SLC6A15):c.739A>G (p.Ile247Val)	SLC6A15 (I247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290916	NM_182767.6(SLC6A15):c.538G>A (p.Asp180Asn)	SLC6A15 (D180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494078	NM_182767.6(SLC6A15):c.512A>T (p.Gln171Leu)	SLC6A15 (Q64L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623407	NM_182767.6(SLC6A15):c.376C>T (p.Arg126Trp)	SLC6A15 (R126W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 687316	GRCh37/hg19 12q21.31(chr12:85187541-85749398)x3	ALX1, LRRIQ1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 547137	GRCh37/hg19 12q21.31(chr12:83266252-86018250)x3	ALX1, LRRIQ1 +3 more	Copy number gain	not provided	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 441902	GRCh37/hg19 12q21.31(chr12:84288746-85385006)x3	SLC6A15	Copy number gain	See cases	GLikely benign
Select item 441609	GRCh37/hg19 12q21.31(chr12:85191032-85746665)x3	ALX1, LRRIQ1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 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: 42