341567[Gene ID] - ClinVar

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Items: 35

	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 3103617	NM_181788.1(H1-7):c.112A>T (p.Thr38Ser)	H1-7 (T38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520203	NM_181788.1(H1-7):c.112A>G (p.Thr38Ala)	H1-7 (T38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103618	NM_181788.1(H1-7):c.117G>C (p.Gln39His)	H1-7 (Q39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592544	NM_181788.1(H1-7):c.139G>A (p.Gly47Arg)	H1-7 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283286	NM_181788.1(H1-7):c.142G>A (p.Gly48Arg)	H1-7 (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103619	NM_181788.1(H1-7):c.187T>A (p.Leu63Met)	H1-7 (L63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103620	NM_181788.1(H1-7):c.218G>A (p.Gly73Glu)	H1-7 (G73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103621	NM_181788.1(H1-7):c.278A>T (p.Lys93Met)	H1-7 (K93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103622	NM_181788.1(H1-7):c.290A>C (p.His97Pro)	H1-7 (H97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103623	NM_181788.1(H1-7):c.350C>T (p.Ala117Val)	H1-7 (A117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103624	NM_181788.1(H1-7):c.373G>T (p.Val125Phe)	H1-7 (V125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103625	NM_181788.1(H1-7):c.382C>T (p.Pro128Ser)	H1-7 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103626	NM_181788.1(H1-7):c.419G>A (p.Gly140Asp)	H1-7 (G140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103627	NM_181788.1(H1-7):c.424C>G (p.Arg142Gly)	H1-7 (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103628	NM_181788.1(H1-7):c.428C>A (p.Ala143Asp)	H1-7 (A143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283287	NM_181788.1(H1-7):c.442C>T (p.Pro148Ser)	H1-7 (P148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103629	NM_181788.1(H1-7):c.470G>A (p.Arg157His)	H1-7 (R157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103630	NM_181788.1(H1-7):c.473G>A (p.Arg158His)	H1-7 (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103631	NM_181788.1(H1-7):c.484C>T (p.Arg162Cys)	H1-7 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103632	NM_181788.1(H1-7):c.506G>A (p.Arg169Lys)	H1-7 (R169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103633	NM_181788.1(H1-7):c.548A>G (p.Asn183Ser)	H1-7 (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103634	NM_181788.1(H1-7):c.704G>A (p.Arg235Gln)	H1-7 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103635	NM_181788.1(H1-7):c.706A>G (p.Ser236Gly)	H1-7 (S236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283284	NM_181788.1(H1-7):c.715C>G (p.Pro239Ala)	H1-7 (P239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103636	NM_181788.1(H1-7):c.748G>A (p.Ala250Thr)	H1-7 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103637	NM_181788.1(H1-7):c.751C>A (p.Gln251Lys)	H1-7 (Q251K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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: 35