ClinVar for Gene (Select 56901) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299023	NM_001394961.1(NDUFA4L2):c.170A>C (p.Glu57Ala)	NDUFA4L2 (E57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299022	NM_001394961.1(NDUFA4L2):c.34C>G (p.Arg12Gly)	NDUFA4L2 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3187085	NM_001394961.1(NDUFA4L2):c.182G>T (p.Arg61Leu)	NDUFA4L2 (R61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187084	NM_001394961.1(NDUFA4L2):c.182G>A (p.Arg61His)	NDUFA4L2 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187082	NM_001394961.1(NDUFA4L2):c.158A>C (p.Lys53Thr)	NDUFA4L2 (K53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509893	NM_001394961.1(NDUFA4L2):c.251G>A (p.Arg84Gln)	LOC130008127, NDUFA4L2 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2389498	NM_001394961.1(NDUFA4L2):c.26G>A (p.Arg9His)	NDUFA4L2 (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374092	NM_001394961.1(NDUFA4L2):c.34C>T (p.Arg12Trp)	NDUFA4L2 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333022	NM_001394961.1(NDUFA4L2):c.194A>G (p.Asn65Ser)	NDUFA4L2 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 21