ClinVar for Gene (Select 101927550) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166769	NM_181349.3(SMURF1):c.2125G>A (p.Glu709Lys)	LOC101927550, SMURF1 (E709K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166768	NM_181349.3(SMURF1):c.2105G>A (p.Arg702Gln)	LOC101927550, SMURF1 (R728Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604258	NM_181349.3(SMURF1):c.1925C>T (p.Thr642Met)	LOC101927550, SMURF1 (T642M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2318188	NM_181349.3(SMURF1):c.2029G>A (p.Gly677Arg)	LOC101927550, SMURF1 (G674R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291655	NM_181349.3(SMURF1):c.2017A>G (p.Thr673Ala)	LOC101927550, SMURF1 (T673A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712665	NM_181349.3(SMURF1):c.2011+9C>T	LOC101927550, SMURF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129389880, LOC129389881 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	AP1S1, ACHE +300 more	Copy number gain	See cases	GPathogenic