ClinVar for Gene (Select 220980) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2378779	NM_001123376.3(TMEM72):c.469G>A (p.Val157Met)	TMEM72, TMEM72-AS1 (V39M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252562	NM_001123376.3(TMEM72):c.433T>C (p.Ser145Pro)	TMEM72, TMEM72-AS1 (S27P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227301	NM_001123376.3(TMEM72):c.689G>A (p.Arg230His)	TMEM72, TMEM72-AS1 (R112H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157159	NC_000010.11:g.44713993_44864035dup	LOC129390167, LOC129390168 +1 more	Duplication	Small for gestational age	Gnot provided
Select item 156705	NM_001123376.3(TMEM72):c.413C>A (p.Ala138Asp)	TMEM72, TMEM72-AS1 (A138D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 145678	GRCh38/hg38 10q11.21(chr10:44752237-44835829)x3	LOC129390167, LOC129390168 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic