Related gene-specific medical variations for Gene (Select 127814298) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065741	NM_014672.4(PRORP):c.176del (p.Thr59fs)	PRORP, PRORP-PSMA6 (T59fs)	Deletion (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 3065718	NM_014672.4(PRORP):c.934C>T (p.Gln312Ter)	PRORP, PRORP-PSMA6 (Q217* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 3060555	NM_014672.4(PRORP):c.1310A>G (p.Asn437Ser)	PRORP, PRORP-PSMA6 (N342S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PRORP-related condition	GBenign
Select item 3060375	NM_001282234.1(PSMA6):c.13C>T (p.Arg5Trp)	PRORP-PSMA6, PSMA6 (R5W)	Single nucleotide variant (non-coding transcript variant +1 more)	PSMA6-related condition	GBenign
Select item 3050747	NM_002791.3(PSMA6):c.172-10T>G	PRORP-PSMA6, PSMA6	Single nucleotide variant (intron variant)	PSMA6-related condition	GLikely benign
Select item 3043006	NM_014672.4(PRORP):c.686C>T (p.Ala229Val)	PRORP, PRORP-PSMA6 (A134V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3041805	NM_014672.4(PRORP):c.1002A>G (p.Gln334=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +3 more)	PRORP-related condition	GLikely benign
Select item 3038940	NM_014672.4(PRORP):c.690G>A (p.Leu230=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +2 more)	PRORP-related condition	GLikely benign
Select item 2644164	NM_014672.4(PRORP):c.228G>A (p.Lys76=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2613049	NM_017917.4(PPP2R3C):c.38C>T (p.Thr13Met)	LOC126861916, PPP2R3C +2 more (T13M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608110	NM_014672.4(PRORP):c.1475A>C (p.His492Pro)	PRORP, PRORP-PSMA6 (H120P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594898	NM_014672.4(PRORP):c.1380G>A (p.Met460Ile)	PRORP, PRORP-PSMA6 (M365I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561330	NM_014672.4(PRORP):c.426T>G (p.Ser142Arg)	PRORP, PRORP-PSMA6 (S142R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2559109	NM_002791.3(PSMA6):c.5C>T (p.Ser2Phe)	PRORP-PSMA6, PSMA6 (S2F)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2551008	NM_002791.3(PSMA6):c.428T>C (p.Ile143Thr)	PRORP-PSMA6, PSMA6 (I143T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548034	NM_014672.4(PRORP):c.1201C>T (p.Arg401Cys)	PRORP, PRORP-PSMA6 (R306C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2536027	NM_014672.4(PRORP):c.703G>A (p.Asp235Asn)	PRORP, PRORP-PSMA6 (D235N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524205	NM_002791.3(PSMA6):c.547G>A (p.Val183Met)	PRORP-PSMA6, PSMA6 (V104M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513514	NM_014672.4(PRORP):c.1333C>T (p.Arg445Trp)	PRORP, PRORP-PSMA6 (R429W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510301	NM_014672.4(PRORP):c.1202G>A (p.Arg401His)	PRORP, PRORP-PSMA6 (R29H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479162	NM_014672.4(PRORP):c.437C>T (p.Ser146Leu)	PRORP, PRORP-PSMA6 (S146L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331158	NM_002791.3(PSMA6):c.43A>G (p.Ile15Val)	PRORP-PSMA6, PSMA6 (I15V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2322446	NM_002791.3(PSMA6):c.655G>A (p.Val219Ile)	PRORP-PSMA6, PSMA6 (V140I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315670	NM_002791.3(PSMA6):c.68A>G (p.Tyr23Cys)	PRORP-PSMA6, PSMA6 (Y23C)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1878503	NM_014672.4(PRORP):c.1093T>C (p.Tyr365His)	PRORP, PRORP-PSMA6 (Y270H +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 1878502	NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)	PRORP, PRORP-PSMA6 (A398V +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54	GPathogenic/Likely pathogenic
Select item 1878501	NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)	PRORP, PRORP-PSMA6 (T292A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 54	GPathogenic/Likely pathogenic
Select item 1705405	NM_014672.4(PRORP):c.1505G>A (p.Arg502Gln)	PRORP, PRORP-PSMA6 (R130Q +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 1685043	NM_014672.4(PRORP):c.16_19del (p.Phe6fs)	PRORP, PRORP-PSMA6 (F6fs)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1327440	NM_017917.4(PPP2R3C):c.-9A>G	LOC126861916, PPP2R3C +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy +2 more	GBenign
Select item 1292049	NM_014672.4(PRORP):c.1261C>T (p.Arg421Cys)	PRORP, PRORP-PSMA6 (R326C +3 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy	GLikely pathogenic
Select item 1292048	NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)	PRORP, PRORP-PSMA6 (A339D +3 more)	Single nucleotide variant (missense variant)	PRORP-related condition	GBenign
Select item 1292047	NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)	PRORP, PRORP-PSMA6 (N317S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638210	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	PRORP, PRORP-PSMA6 (S28fs +3 more)	Duplication (frameshift variant)	Microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 638209	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	PRORP, PRORP-PSMA6 (R445Q +3 more)	Single nucleotide variant (missense variant)	Microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 638208	NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)	PRORP, PRORP-PSMA6 (A485V +3 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 6796	NM_002791.3(PSMA6):c.-8C>G	PRORP-PSMA6, PSMA6	Single nucleotide variant (5 prime UTR variant +2 more)	PSMA6-related condition	GBenign

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Items: 37