Related gene-specific medical variations for Gene (Select 1727) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131804	NM_001165877.1(ATP5MGL):c.85G>A (p.Ala29Thr)	ATP5MGL, CYB5R3 (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131803	NM_001165877.1(ATP5MGL):c.80T>C (p.Leu27Ser)	ATP5MGL, CYB5R3 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131802	NM_001165877.1(ATP5MGL):c.79T>A (p.Leu27Met)	ATP5MGL, CYB5R3 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131801	NM_001165877.1(ATP5MGL):c.287G>C (p.Arg96Pro)	ATP5MGL, CYB5R3 (R96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131800	NM_001165877.1(ATP5MGL):c.287G>A (p.Arg96His)	ATP5MGL, CYB5R3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131799	NM_001165877.1(ATP5MGL):c.217G>A (p.Ala73Thr)	ATP5MGL, CYB5R3 (A73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131798	NM_001165877.1(ATP5MGL):c.208G>A (p.Val70Ile)	ATP5MGL, CYB5R3 (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131797	NM_001165877.1(ATP5MGL):c.139C>T (p.Pro47Ser)	ATP5MGL, CYB5R3 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131796	NM_001165877.1(ATP5MGL):c.139C>G (p.Pro47Ala)	ATP5MGL, CYB5R3 (P47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688907	NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)	CYB5R3 (A135T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688906	NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)	CYB5R3 (R209C +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688905	NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)	CYB5R3, LOC130067609 (S6G)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2688904	NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)	CYB5R3 (D100N +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2653259	NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=)	ATP5MGL, CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486529	NM_001165877.1(ATP5MGL):c.103A>G (p.Thr35Ala)	ATP5MGL, CYB5R3 (T35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440663	NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)	CYB5R3 (E243Q +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440661	NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)	CYB5R3 (I145T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440659	NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)	CYB5R3 (H182Y +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440658	NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)	CYB5R3 (P21S +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440657	NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)	CYB5R3, LOC130067609 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1970723	NM_000398.7(CYB5R3):c.10C>T (p.Gln4Ter)	CYB5R3, LOC130067609 (Q4*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1705148	NM_000398.7(CYB5R3):c.7del (p.Ala3fs)	CYB5R3, LOC130067609 (A3fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1330897	NM_000398.7(CYB5R3):c.21+4910G>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330752	NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del)	CYB5R3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 995637	NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met)	CYB5R3 (T272M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994069	NM_000398.7(CYB5R3):c.21+6C>T	CYB5R3, LOC130067609	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811734	NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala)	CYB5R3 (T117A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 27