Related gene-specific medical variations for Gene (Select 64746) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261294	NM_022735.4(ACBD3):c.1330A>G (p.Ser444Gly)	ACBD3, ACBD3-AS1 (S444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261283	NM_022735.4(ACBD3):c.7G>A (p.Ala3Thr)	ACBD3, LOC122152311 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261272	NM_022735.4(ACBD3):c.1279A>G (p.Ile427Val)	ACBD3, ACBD3-AS1 (I427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261241	NM_022735.4(ACBD3):c.1325C>A (p.Ala442Asp)	ACBD3, ACBD3-AS1 (A442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261237	NM_022735.4(ACBD3):c.1132C>A (p.Pro378Thr)	ACBD3, ACBD3-AS1 (P378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261215	NM_022735.4(ACBD3):c.1180G>A (p.Val394Met)	ACBD3, ACBD3-AS1 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135868	NM_022735.4(ACBD3):c.1363G>A (p.Glu455Lys)	ACBD3, ACBD3-AS1 (E455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135863	NM_022735.4(ACBD3):c.118C>T (p.Pro40Ser)	ACBD3, LOC122152311 (P40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135862	NM_022735.4(ACBD3):c.1136A>G (p.Gln379Arg)	ACBD3, ACBD3-AS1 (Q379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135861	NM_022735.4(ACBD3):c.1064A>G (p.Glu355Gly)	ACBD3, ACBD3-AS1 (E355G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554988	NM_022735.4(ACBD3):c.926A>G (p.Glu309Gly)	ACBD3, ACBD3-AS1 (E309G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545955	NM_022735.4(ACBD3):c.1318A>G (p.Asn440Asp)	ACBD3, ACBD3-AS1 (N440D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372587	NM_022735.4(ACBD3):c.188C>T (p.Ala63Val)	ACBD3, LOC122152311 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330113	NM_022735.4(ACBD3):c.1023C>A (p.His341Gln)	ACBD3, ACBD3-AS1 (H341Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2307764	NM_022735.4(ACBD3):c.38C>T (p.Ser13Phe)	ACBD3, LOC122152311 (S13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266514	NM_022735.4(ACBD3):c.226G>A (p.Glu76Lys)	ACBD3, LOC122152311 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235343	NM_022735.4(ACBD3):c.1246C>A (p.Leu416Ile)	ACBD3, ACBD3-AS1 (L416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220119	NM_022735.4(ACBD3):c.1365G>C (p.Glu455Asp)	ACBD3, ACBD3-AS1 (E455D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780305	NM_022735.4(ACBD3):c.21A>T (p.Ala7=)	ACBD3, LOC122152311	Single nucleotide variant (synonymous variant)	not provided	GBenign