ClinVar for Gene (Select 23409) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362398	NR_003925.1(RNU4-1):n.96T>G	RNU4-1, SIRT4	Single nucleotide variant (non-coding transcript variant +1 more)	RNU4-1-associated neurodevelopmental disorder	GUncertain significance
Select item 3342228	NR_003137.3(RNU4-2):n.26G>A	RNU4-2, SIRT4	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 3318650	NM_012240.3(SIRT4):c.760G>A (p.Asp254Asn)	SIRT4 (D163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318649	NM_012240.3(SIRT4):c.86T>C (p.Ile29Thr)	SIRT4 (I29T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3162537	NM_012240.3(SIRT4):c.907C>T (p.Arg303Cys)	SIRT4 (R303C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162536	NM_012240.3(SIRT4):c.845T>C (p.Ile282Thr)	SIRT4 (I191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162535	NM_012240.3(SIRT4):c.63C>G (p.Ser21Arg)	SIRT4 (S21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162534	NM_012240.3(SIRT4):c.514T>G (p.Cys172Gly)	SIRT4 (C81G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068742	NR_003137.3(RNU4-2):n.64_65insT	RNU4-1, RNU4-2 +1 more	Insertion (non-coding transcript variant)	not provided +2 more	GPathogenic
Select item 2643396	NM_012240.3(SIRT4):c.613G>A (p.Val205Ile)	SIRT4 (V114I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598469	NM_012240.3(SIRT4):c.206C>T (p.Ser69Leu)	SIRT4 (S69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552915	NM_012240.3(SIRT4):c.806A>C (p.Tyr269Ser)	SIRT4 (Y178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525688	NM_012240.3(SIRT4):c.289C>T (p.Arg97Trp)	SIRT4 (R97W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520086	NM_012240.3(SIRT4):c.755A>C (p.Glu252Ala)	SIRT4 (E161A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494989	NM_012240.3(SIRT4):c.690T>G (p.Asp230Glu)	SIRT4 (D139E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462572	NM_012240.3(SIRT4):c.550C>T (p.Arg184Cys)	SIRT4 (R93C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455806	NM_012240.3(SIRT4):c.464G>A (p.Arg155Gln)	SIRT4 (R155Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406995	NM_012240.3(SIRT4):c.524A>C (p.Gln175Pro)	SIRT4 (Q175P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396540	NM_012240.3(SIRT4):c.305G>A (p.Arg102His)	SIRT4 (R102H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369564	NM_012240.3(SIRT4):c.320C>T (p.Ala107Val)	SIRT4 (A107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364482	NM_012240.3(SIRT4):c.835A>C (p.Lys279Gln)	SIRT4 (K279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344534	NM_012240.3(SIRT4):c.619C>G (p.Leu207Val)	SIRT4 (L116V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333715	NM_012240.3(SIRT4):c.403G>A (p.Gly135Arg)	SIRT4 (G135R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321123	NM_012240.3(SIRT4):c.863G>C (p.Gly288Ala)	SIRT4 (G197A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297415	NM_012240.3(SIRT4):c.491T>A (p.Met164Lys)	SIRT4 (M164K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257165	NM_012240.3(SIRT4):c.251G>T (p.Arg84Leu)	SIRT4 (R84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226276	NM_012240.3(SIRT4):c.908G>A (p.Arg303His)	SIRT4 (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220103	NM_012240.3(SIRT4):c.394G>A (p.Glu132Lys)	SIRT4 (E132K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209060	NM_012240.3(SIRT4):c.455C>T (p.Ala152Val)	SIRT4 (A152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808296	GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	COQ5, COX6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 715657	NM_012240.3(SIRT4):c.304C>T (p.Arg102Cys)	SIRT4 (R102C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714573	NM_012240.3(SIRT4):c.852A>T (p.Ile284=)	SIRT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44