Related gene-specific medical variations for Gene (Select 8874) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129380	NM_001354046.2(ARHGEF7):c.191G>T (p.Ser64Ile)	ARHGEF7, LOC130010153 (S64I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129379	NM_001354046.2(ARHGEF7):c.1675A>G (p.Thr559Ala)	ARHGEF7, LOC126861861 (T487A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129378	NM_001354046.2(ARHGEF7):c.1605A>G (p.Ile535Met)	ARHGEF7, LOC126861861 (I453M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129377	NM_001354046.2(ARHGEF7):c.1601G>A (p.Arg534Gln)	ARHGEF7, LOC126861861 (R253Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539457	NM_001354046.2(ARHGEF7):c.146T>G (p.Leu49Arg)	ARHGEF7, ARHGEF7-AS2 (L49R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2456802	NM_001354046.2(ARHGEF7):c.1667C>T (p.Thr556Met)	ARHGEF7, LOC126861861 (T484M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350696	NM_001354046.2(ARHGEF7):c.178C>G (p.Pro60Ala)	ARHGEF7, LOC130010153 (P60A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271401	NM_001354046.2(ARHGEF7):c.187G>C (p.Glu63Gln)	ARHGEF7, LOC130010153 (E63Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 749238	NM_001354046.2(ARHGEF7):c.85G>A (p.Gly29Ser)	ARHGEF7, ARHGEF7-AS2 (G29S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 748152	NM_001354046.2(ARHGEF7):c.40C>T (p.Leu14=)	ARHGEF7, ARHGEF7-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 726686	NM_001354046.2(ARHGEF7):c.1668G>A (p.Thr556=)	ARHGEF7, LOC126861861	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688701	GRCh37/hg19 13q34(chr13:111846270-111877000)x1	ARHGEF7	Copy number loss	not provided	GUncertain significance