13621[HGNC] - ClinVar

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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

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Items: 42