26035[HGNC] - ClinVar

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Items: 27

	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 3151565	NM_001098531.4(RAPGEF3):c.214C>T (p.Arg72Cys)	RAPGEF3, SLC48A1 (R30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360683	NM_001098531.4(RAPGEF3):c.191G>A (p.Arg64His)	RAPGEF3, SLC48A1 (R22H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714536	NM_001098531.4(RAPGEF3):c.108G>A (p.Pro36=)	RAPGEF3, SLC48A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2323469	NM_001098531.4(RAPGEF3):c.100G>A (p.Val34Met)	RAPGEF3, SLC48A1 (V34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237777	NM_001098531.4(RAPGEF3):c.80G>C (p.Arg27Pro)	RAPGEF3, SLC48A1 (R27P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407725	NM_001098531.4(RAPGEF3):c.68T>C (p.Leu23Pro)	RAPGEF3, SLC48A1 (L23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456617	NM_001098531.4(RAPGEF3):c.15G>T (p.Trp5Cys)	RAPGEF3, SLC48A1 (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428652	NM_017842.3(SLC48A1):c.43T>C (p.Ser15Pro)	SLC48A1 (S15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545843	NM_017842.3(SLC48A1):c.61G>T (p.Ala21Ser)	SLC48A1 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369330	NM_017842.3(SLC48A1):c.82G>C (p.Val28Leu)	SLC48A1 (V28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601707	NM_017842.3(SLC48A1):c.115G>A (p.Ala39Thr)	SLC48A1 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230697	NM_017842.3(SLC48A1):c.235G>A (p.Val79Ile)	SLC48A1 (V79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164964	NM_017842.3(SLC48A1):c.280G>A (p.Val94Met)	SLC48A1 (V94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345233	NM_017842.3(SLC48A1):c.293C>G (p.Thr98Ser)	SLC48A1 (T98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532076	NM_017842.3(SLC48A1):c.319A>G (p.Thr107Ala)	SLC48A1 (T107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477018	NM_017842.3(SLC48A1):c.360C>G (p.Phe120Leu)	SLC48A1 (F120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244716	NM_017842.3(SLC48A1):c.386A>G (p.Tyr129Cys)	SLC48A1 (Y129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
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

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Items: 27