26056[HGNC] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2227034	NM_017880.3(C2orf42):c.1654T>C (p.Tyr552His)	C2orf42 (Y552H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239398	NM_017880.3(C2orf42):c.1634G>A (p.Arg545Gln)	C2orf42 (R545Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248870	NM_017880.3(C2orf42):c.1447G>A (p.Glu483Lys)	C2orf42 (E483K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252396	NM_017880.3(C2orf42):c.1282G>C (p.Gly428Arg)	C2orf42 (G428R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252864	NM_017880.3(C2orf42):c.858C>G (p.Cys286Trp)	C2orf42 (C286W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252715	NM_017880.3(C2orf42):c.527C>T (p.Pro176Leu)	C2orf42, LOC129934040 (P176L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562571	GRCh37/hg19 2p13.3(chr2:70338896-70664385)x3	FAM136A, PCYOX1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic