26669[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 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2455791	NM_152591.3(CCDC63):c.37G>T (p.Asp13Tyr)	CCDC63, LOC126861639 (D13Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139262	NM_152591.3(CCDC63):c.43C>T (p.Pro15Ser)	CCDC63, LOC126861639 (P15S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2545981	NM_152591.3(CCDC63):c.90G>C (p.Glu30Asp)	CCDC63, LOC126861639 (E30D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139260	NM_152591.3(CCDC63):c.152G>A (p.Arg51Gln)	CCDC63, LOC126861639 (R11Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261565	NM_152591.3(CCDC63):c.185A>C (p.Glu62Ala)	CCDC63 (E22A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139261	NM_152591.3(CCDC63):c.248C>T (p.Ser83Leu)	CCDC63 (S43L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260937	NM_152591.3(CCDC63):c.431C>T (p.Ala144Val)	CCDC63 (A144V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139263	NM_152591.3(CCDC63):c.442C>T (p.Arg148Trp)	CCDC63 (R148W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139264	NM_152591.3(CCDC63):c.476C>A (p.Thr159Asn)	CCDC63 (T119N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557785	NM_152591.3(CCDC63):c.488T>C (p.Leu163Pro)	CCDC63 (L123P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293852	NM_152591.3(CCDC63):c.560T>A (p.Phe187Tyr)	CCDC63 (F147Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254841	NM_152591.3(CCDC63):c.619A>G (p.Lys207Glu)	CCDC63 (K128E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529896	NM_152591.3(CCDC63):c.629T>A (p.Met210Lys)	CCDC63 (M210K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297313	NM_152591.3(CCDC63):c.701T>G (p.Met234Arg)	CCDC63 (M155R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492416	NM_152591.3(CCDC63):c.702G>T (p.Met234Ile)	CCDC63 (M155I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230444	NM_152591.3(CCDC63):c.709C>T (p.Arg237Cys)	CCDC63 (R197C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405364	NM_152591.3(CCDC63):c.710G>A (p.Arg237His)	CCDC63 (R158H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294623	NM_152591.3(CCDC63):c.928C>A (p.Leu310Met)	CCDC63 (L310M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139254	NM_152591.3(CCDC63):c.1013C>T (p.Thr338Met)	CCDC63 (T259M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139255	NM_152591.3(CCDC63):c.1022C>T (p.Thr341Met)	CCDC63 (T301M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495219	NM_152591.3(CCDC63):c.1022C>G (p.Thr341Arg)	CCDC63 (T301R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300985	NM_152591.3(CCDC63):c.1041G>C (p.Met347Ile)	CCDC63 (M268I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264251	NM_152591.3(CCDC63):c.1077C>A (p.Asp359Glu)	CCDC63 (D280E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139256	NM_152591.3(CCDC63):c.1157T>A (p.Leu386Gln)	CCDC63 (L307Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139257	NM_152591.3(CCDC63):c.1202G>C (p.Gly401Ala)	CCDC63 (G322A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475501	NM_152591.3(CCDC63):c.1292A>C (p.Gln431Pro)	CCDC63 (Q352P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226478	NM_152591.3(CCDC63):c.1316C>T (p.Thr439Ile)	CCDC63 (T399I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538098	NM_152591.3(CCDC63):c.1349T>G (p.Ile450Ser)	CCDC63 (I450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522466	NM_152591.3(CCDC63):c.1393C>T (p.Arg465Cys)	CCDC63 (R386C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595346	NM_152591.3(CCDC63):c.1412G>A (p.Gly471Glu)	CCDC63 (G431E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139258	NM_152591.3(CCDC63):c.1447C>A (p.Pro483Thr)	CCDC63 (P404T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139259	NM_152591.3(CCDC63):c.1501C>T (p.Pro501Ser)	CCDC63 (P422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264253	NM_152591.3(CCDC63):c.1523C>A (p.Pro508His)	CCDC63 (P429H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264252	NM_152591.3(CCDC63):c.1640G>A (p.Ser547Asn)	CCDC63 (S507N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
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

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Items: 42