60436[Gene ID] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2494520	NM_021809.7(TGIF2):c.28G>A (p.Glu10Lys)	TGIF2, TGIF2-RAB5IF (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530805	NM_021809.7(TGIF2):c.263C>A (p.Pro88His)	TGIF2, TGIF2-RAB5IF (P88H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400407	NM_021809.7(TGIF2):c.287G>A (p.Arg96His)	TGIF2, TGIF2-RAB5IF (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248199	NM_021809.7(TGIF2):c.311C>T (p.Ala104Val)	TGIF2, TGIF2-RAB5IF (A104V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457286	NM_021809.7(TGIF2):c.337G>A (p.Val113Met)	TGIF2, TGIF2-RAB5IF (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325738	NM_021809.7(TGIF2):c.380T>A (p.Leu127Gln)	TGIF2, TGIF2-RAB5IF (L127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176691	NM_021809.7(TGIF2):c.460C>T (p.Pro154Ser)	TGIF2, TGIF2-RAB5IF (P154S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325737	NM_021809.7(TGIF2):c.632A>C (p.Glu211Ala)	TGIF2, TGIF2-RAB5IF (E211A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176692	NM_021809.7(TGIF2):c.634A>G (p.Met212Val)	TGIF2, TGIF2-RAB5IF (M212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312347	NM_021809.7(TGIF2):c.673C>G (p.Leu225Val)	TGIF2, TGIF2-RAB5IF (L225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic