Related gene-specific medical variations for Gene (Select 122970) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262015	NM_152331.4(ACOT4):c.674G>A (p.Gly225Asp)	ACOT4, HEATR4 (G225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262004	NM_152331.4(ACOT4):c.151C>A (p.Arg51Ser)	ACOT4, HEATR4 (R51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261993	NM_152331.4(ACOT4):c.366G>C (p.Gln122His)	ACOT4, HEATR4 (Q122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261982	NM_152331.4(ACOT4):c.433C>T (p.Arg145Cys)	ACOT4, HEATR4 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261971	NM_152331.4(ACOT4):c.265C>A (p.Pro89Thr)	ACOT4, HEATR4 (P89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137857	NM_152331.4(ACOT4):c.980A>G (p.His327Arg)	ACOT4, HEATR4 (H327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137833	NM_152331.4(ACOT4):c.779G>T (p.Ser260Ile)	ACOT4, HEATR4 (S260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137824	NM_152331.4(ACOT4):c.704C>G (p.Ala235Gly)	ACOT4, HEATR4 (A235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137812	NM_152331.4(ACOT4):c.624C>G (p.Phe208Leu)	ACOT4, HEATR4 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137801	NM_152331.4(ACOT4):c.48C>G (p.Asn16Lys)	ACOT4, HEATR4 (N16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137788	NM_152331.4(ACOT4):c.287G>C (p.Arg96Pro)	ACOT4, HEATR4 (R96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137783	NM_152331.4(ACOT4):c.194C>T (p.Ala65Val)	ACOT4, HEATR4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137775	NM_152331.4(ACOT4):c.142G>A (p.Ala48Thr)	ACOT4, HEATR4 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137760	NM_152331.4(ACOT4):c.1115C>G (p.Ala372Gly)	ACOT4, HEATR4 (A372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2798877	NM_152331.4(ACOT4):c.560C>A (p.Ala187Asp)	ACOT4, HEATR4 (A187D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2617146	NM_152331.4(ACOT4):c.406C>G (p.Arg136Gly)	ACOT4, HEATR4 (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602177	NM_152331.4(ACOT4):c.1167G>C (p.Arg389Ser)	ACOT4, HEATR4 (R389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597114	NM_152331.4(ACOT4):c.898G>A (p.Val300Ile)	ACOT4, HEATR4 (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592068	NM_152331.4(ACOT4):c.554C>T (p.Thr185Met)	ACOT4, HEATR4 (T185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551731	NM_152331.4(ACOT4):c.1237A>G (p.Thr413Ala)	ACOT4, HEATR4 (T413A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515200	NM_152331.4(ACOT4):c.1214T>C (p.Phe405Ser)	ACOT4, HEATR4 (F405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515199	NM_152331.4(ACOT4):c.1213T>G (p.Phe405Val)	ACOT4, HEATR4 (F405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470974	NM_152331.4(ACOT4):c.53C>T (p.Pro18Leu)	ACOT4, HEATR4 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459365	NM_152331.4(ACOT4):c.638G>A (p.Cys213Tyr)	ACOT4, HEATR4 (C213Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455913	NM_152331.4(ACOT4):c.908A>G (p.Tyr303Cys)	ACOT4, HEATR4 (Y303C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371113	NM_152331.4(ACOT4):c.764A>G (p.Asn255Ser)	ACOT4, HEATR4 (N255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304649	NM_152331.4(ACOT4):c.968G>C (p.Gly323Ala)	ACOT4, HEATR4 (G323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279190	NM_152331.4(ACOT4):c.725C>T (p.Ala242Val)	ACOT4, HEATR4 (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271500	NM_152331.4(ACOT4):c.496A>T (p.Ile166Phe)	ACOT4, HEATR4 (I166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268396	NM_152331.4(ACOT4):c.1147A>G (p.Ile383Val)	ACOT4, HEATR4 (I383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266947	NM_152331.4(ACOT4):c.193G>A (p.Ala65Thr)	ACOT4, HEATR4 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259981	NM_152331.4(ACOT4):c.362G>A (p.Cys121Tyr)	ACOT4, HEATR4 (C121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258191	NM_152331.4(ACOT4):c.319G>A (p.Glu107Lys)	ACOT4, HEATR4 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244183	NM_152331.4(ACOT4):c.208G>T (p.Gly70Cys)	ACOT4, HEATR4 (G70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243367	NM_152331.4(ACOT4):c.77T>C (p.Leu26Pro)	ACOT4, HEATR4 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240697	NM_152331.4(ACOT4):c.541C>T (p.His181Tyr)	ACOT4, HEATR4 (H181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236148	NM_152331.4(ACOT4):c.889A>T (p.Asn297Tyr)	ACOT4, HEATR4 (N297Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232344	NM_152331.4(ACOT4):c.452C>G (p.Pro151Arg)	ACOT4, HEATR4 (P151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488646	NM_152331.4(ACOT4):c.569A>G (p.Tyr190Cys)	ACOT4, HEATR4 (Y190C)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 488645	NM_152331.4(ACOT4):c.567T>A (p.Ala189=)	ACOT4, HEATR4	Single nucleotide variant (synonymous variant)	Intellectual disability	GUncertain significance
Select item 488644	NM_152331.4(ACOT4):c.566C>A (p.Ala189Asp)	ACOT4, HEATR4 (A189D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41