Related gene-specific medical variations for Gene (Select 55471) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218841	NM_005813.6(PRKD3):c.2644A>C (p.Asn882His)	NDUFAF7, PRKD3 (N882H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218840	NM_005813.6(PRKD3):c.2173C>T (p.Arg725Cys)	NDUFAF7, PRKD3 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218839	NM_005813.6(PRKD3):c.1895A>T (p.His632Leu)	NDUFAF7, PRKD3 (H632L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2985187	NM_144736.5(NDUFAF7):c.56C>T (p.Ala19Val)	LOC126806192, NDUFAF7 (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886365	NM_144736.5(NDUFAF7):c.77G>T (p.Gly26Val)	LOC126806192, NDUFAF7 (G26V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2524441	NM_005813.6(PRKD3):c.2021G>A (p.Arg674Gln)	NDUFAF7, PRKD3 (R674Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507898	NM_005813.6(PRKD3):c.2646T>A (p.Asn882Lys)	NDUFAF7, PRKD3 (N882K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2319040	NM_005813.6(PRKD3):c.2500G>C (p.Asp834His)	NDUFAF7, PRKD3 (D834H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296060	NM_005813.6(PRKD3):c.2540G>A (p.Arg847His)	NDUFAF7, PRKD3 (R847H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288926	NM_005813.6(PRKD3):c.2542A>G (p.Ile848Val)	NDUFAF7, PRKD3 (I848V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203813	NM_005813.6(PRKD3):c.2245C>T (p.Arg749Trp)	NDUFAF7, PRKD3 (R749W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1915835	NM_144736.5(NDUFAF7):c.67A>G (p.Ile23Val)	LOC126806192, NDUFAF7 (I23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1587336	NM_144736.5(NDUFAF7):c.9A>G (p.Val3=)	LOC126806192, NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1268049	NM_144736.5(NDUFAF7):c.56-66C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241731	NM_144736.5(NDUFAF7):c.-37_-36delinsC	LOC126806192, NDUFAF7	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 681600	NM_144736.5(NDUFAF7):c.-11C>T	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 673729	NM_144736.5(NDUFAF7):c.56-41C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418379	NM_144736.5(NDUFAF7):c.-36del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 214761	NM_144736.5(NDUFAF7):c.23G>A (p.Gly8Asp)	LOC126806192, NDUFAF7 (G8D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 214757	NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr)	NDUFAF7, LOC126806192 (S7T)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 214756	NM_144736.5(NDUFAF7):c.-37del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 138467	NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)	LOC126806192, NDUFAF7 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 138466	NM_144736.5(NDUFAF7):c.-36G>C	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign

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: 23