AMDHD1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3292406	NM_152435.3(AMDHD1):c.32A>C (p.Asn11Thr)	AMDHD1 (N11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114946	NM_152435.3(AMDHD1):c.103G>T (p.Ala35Ser)	AMDHD1 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211314	NM_152435.3(AMDHD1):c.130G>T (p.Val44Leu)	AMDHD1 (V44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240018	NM_152435.3(AMDHD1):c.326A>G (p.Tyr109Cys)	AMDHD1 (Y109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597776	NM_152435.3(AMDHD1):c.340C>G (p.Gln114Glu)	AMDHD1 (Q114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496296	NM_152435.3(AMDHD1):c.415C>A (p.Gln139Lys)	AMDHD1 (Q139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114964	NM_152435.3(AMDHD1):c.418C>G (p.Gln140Glu)	AMDHD1 (Q140E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410991	NM_152435.3(AMDHD1):c.433A>G (p.Met145Val)	AMDHD1 (M145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332979	NM_152435.3(AMDHD1):c.507G>A (p.Met169Ile)	AMDHD1 (M169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378493	NM_152435.3(AMDHD1):c.644T>G (p.Leu215Arg)	AMDHD1 (L215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361559	NM_152435.3(AMDHD1):c.668A>G (p.Glu223Gly)	AMDHD1 (E223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354262	NM_152435.3(AMDHD1):c.676G>A (p.Val226Met)	AMDHD1 (V226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395447	NM_152435.3(AMDHD1):c.691G>A (p.Val231Ile)	AMDHD1 (V231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611386	NM_152435.3(AMDHD1):c.707G>A (p.Gly236Asp)	AMDHD1 (G236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292395	NM_152435.3(AMDHD1):c.719T>C (p.Leu240Pro)	AMDHD1 (L240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114971	NM_152435.3(AMDHD1):c.979G>A (p.Val327Ile)	AMDHD1 (V327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114945	NM_152435.3(AMDHD1):c.1016C>T (p.Ala339Val)	AMDHD1 (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551287	NM_152435.3(AMDHD1):c.1118C>T (p.Ala373Val)	AMDHD1, LOC114803471 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301530	NM_152435.3(AMDHD1):c.1127A>G (p.Lys376Arg)	AMDHD1, LOC114803471 (K376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807664	GRCh37/hg19 12q23.1(chr12:96279628-96608563)x3	AMDHD1, CCDC38 +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 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: 25