ClinVar for Gene (Select 79035) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172557	NM_024068.4(NABP2):c.515C>T (p.Ser172Phe)	NABP2 (S172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521301	NM_024068.4(NABP2):c.581C>T (p.Pro194Leu)	NABP2 (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511589	NM_024068.4(NABP2):c.484G>A (p.Gly162Ser)	NABP2 (G162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492445	NM_024068.4(NABP2):c.487G>A (p.Gly163Ser)	NABP2 (G163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330450	NM_024068.4(NABP2):c.230T>C (p.Val77Ala)	NABP2 (V77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277535	NM_024068.4(NABP2):c.73G>A (p.Glu25Lys)	NABP2 (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237146	NM_024068.4(NABP2):c.103G>A (p.Gly35Arg)	NABP2 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231680	NM_024068.4(NABP2):c.427G>A (p.Ala143Thr)	NABP2 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic