Related gene-specific medical variations for Gene (Select 976) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271198	NM_078481.4(ADGRE5):c.1082C>T (p.Thr361Ile)	ADGRE5, LOC126862868 (T361I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271162	NM_078481.4(ADGRE5):c.2449A>T (p.Thr817Ser)	ADGRE5, LOC130063779 (T724S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271133	NM_078481.4(ADGRE5):c.508C>T (p.Pro170Ser)	ADGRE5, LOC126862867 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085079	NM_078481.4(ADGRE5):c.503A>C (p.Gln168Pro)	ADGRE5, LOC126862867 (Q168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085063	NM_078481.4(ADGRE5):c.2416G>A (p.Gly806Arg)	ADGRE5, LOC130063779 (G806R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084970	NM_078481.4(ADGRE5):c.1303C>T (p.Arg435Cys)	ADGRE5, LOC126862868 (R342C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084961	NM_078481.4(ADGRE5):c.1153T>C (p.Trp385Arg)	ADGRE5, LOC126862868 (W336R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620906	NM_078481.4(ADGRE5):c.1319G>A (p.Arg440Lys)	ADGRE5, LOC126862868 (R440K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602029	NM_078481.4(ADGRE5):c.509C>T (p.Pro170Leu)	ADGRE5, LOC126862867 (P170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591368	NM_078481.4(ADGRE5):c.2468A>G (p.Asn823Ser)	ADGRE5, LOC130063779 (N730S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548117	NM_078481.4(ADGRE5):c.1304G>A (p.Arg435His)	ADGRE5, LOC126862868 (R386H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535059	NM_078481.4(ADGRE5):c.2425A>C (p.Lys809Gln)	ADGRE5, LOC130063779 (K716Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512487	NM_078481.4(ADGRE5):c.2377G>A (p.Val793Ile)	ADGRE5, LOC130063779 (V744I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466165	NM_078481.4(ADGRE5):c.569C>T (p.Pro190Leu)	ADGRE5, LOC126862867 (P190L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400165	NM_078481.4(ADGRE5):c.616G>A (p.Val206Ile)	ADGRE5, LOC126862867 (V206I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396519	NM_078481.4(ADGRE5):c.541G>C (p.Val181Leu)	ADGRE5, LOC126862867 (V181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389653	NM_078481.4(ADGRE5):c.2477G>A (p.Arg826Gln)	ADGRE5, LOC130063779 (R826Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355369	NM_078481.4(ADGRE5):c.2417G>C (p.Gly806Ala)	ADGRE5, LOC130063779 (G713A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347904	NM_078481.4(ADGRE5):c.2380C>T (p.Arg794Trp)	ADGRE5, LOC130063779 (R701W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319344	NM_078481.4(ADGRE5):c.1141A>G (p.Met381Val)	ADGRE5, LOC126862868 (M332V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311046	NM_078481.4(ADGRE5):c.1046C>T (p.Pro349Leu)	ADGRE5, LOC126862868 (P256L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260921	NM_078481.4(ADGRE5):c.1135G>A (p.Ala379Thr)	ADGRE5, LOC126862868 (A379T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258432	NM_078481.4(ADGRE5):c.2387A>T (p.Glu796Val)	ADGRE5, LOC130063779 (E703V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256366	NM_078481.4(ADGRE5):c.1656G>C (p.Arg552Ser)	ADGRE5, LOC121627857 (R503S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239054	NM_078481.4(ADGRE5):c.1280A>G (p.Glu427Gly)	ADGRE5, LOC126862868 (E427G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212510	NM_078481.4(ADGRE5):c.1131C>G (p.Ser377Arg)	ADGRE5, LOC126862868 (S328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791352	NM_078481.4(ADGRE5):c.1183+10G>A	ADGRE5, LOC126862868	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715742	NM_078481.4(ADGRE5):c.1113C>T (p.Asn371=)	ADGRE5, LOC126862868	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 28