SLC25A33[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319227	NM_032315.3(SLC25A33):c.113G>A (p.Arg38Gln)	SLC25A33 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050771	NM_032315.3(SLC25A33):c.138C>T (p.Leu46=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GBenign
Select item 3163690	NM_032315.3(SLC25A33):c.155C>T (p.Pro52Leu)	SLC25A33 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298307	NM_032315.3(SLC25A33):c.238T>A (p.Ser80Thr)	SLC25A33 (S80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298308	NM_032315.3(SLC25A33):c.239C>G (p.Ser80Trp)	SLC25A33 (S80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319226	NM_032315.3(SLC25A33):c.325T>G (p.Phe109Val)	SLC25A33 (F109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514879	NM_032315.3(SLC25A33):c.340A>G (p.Lys114Glu)	SLC25A33 (K114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163692	NM_032315.3(SLC25A33):c.370G>A (p.Val124Met)	SLC25A33 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319225	NM_032315.3(SLC25A33):c.410C>T (p.Ser137Phe)	SLC25A33 (S137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328271	NM_032315.3(SLC25A33):c.418T>C (p.Phe140Leu)	SLC25A33 (F140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163693	NM_032315.3(SLC25A33):c.454G>C (p.Val152Leu)	SLC25A33 (V152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041935	NM_032315.3(SLC25A33):c.477A>G (p.Glu159=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GBenign
Select item 3163694	NM_032315.3(SLC25A33):c.541G>A (p.Glu181Lys)	SLC25A33 (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163695	NM_032315.3(SLC25A33):c.550C>T (p.Arg184Cys)	SLC25A33 (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309218	NM_032315.3(SLC25A33):c.793G>A (p.Gly265Ser)	SLC25A33 (G265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050590	NM_032315.3(SLC25A33):c.801G>A (p.Lys267=)	SLC25A33	Single nucleotide variant (synonymous variant)	SLC25A33-related disorder	GLikely benign
Select item 2310418	NM_032315.3(SLC25A33):c.806A>C (p.Lys269Thr)	SLC25A33 (K269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455891	NM_032315.3(SLC25A33):c.839G>A (p.Arg280Gln)	SLC25A33 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163696	NM_032315.3(SLC25A33):c.956G>T (p.Arg319Leu)	SLC25A33 (R319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163697	NM_032315.3(SLC25A33):c.959C>T (p.Thr320Ile)	SLC25A33 (T320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041336	NM_032315.3(SLC25A33):c.*4G>T	SLC25A33	Single nucleotide variant (3 prime UTR variant)	SLC25A33-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21