ADGRB3[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148991	GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3	ADGRB3, ADGRB3-DT +105 more	Copy number gain	See cases	GPathogenic
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 2376033	NM_001704.3(ADGRB3):c.99G>T (p.Leu33Phe)	ADGRB3 (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338524	NM_001704.3(ADGRB3):c.139del (p.Met47fs)	ADGRB3 (M47fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2242857	NM_001704.3(ADGRB3):c.232C>T (p.Leu78Phe)	ADGRB3 (L78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270794	NM_001704.3(ADGRB3):c.253C>T (p.Leu85Phe)	ADGRB3 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296753	NM_001704.3(ADGRB3):c.291A>C (p.Lys97Asn)	ADGRB3 (K97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617805	NM_001704.3(ADGRB3):c.298G>T (p.Asp100Tyr)	ADGRB3 (D100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412227	NM_001704.3(ADGRB3):c.345G>T (p.Lys115Asn)	ADGRB3 (K115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084257	NM_001704.3(ADGRB3):c.371A>G (p.Asp124Gly)	ADGRB3 (D124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388037	NM_001704.3(ADGRB3):c.395G>A (p.Arg132Gln)	ADGRB3 (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340469	NM_001704.3(ADGRB3):c.440A>C (p.Glu147Ala)	ADGRB3 (E147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595572	NM_001704.3(ADGRB3):c.517A>G (p.Thr173Ala)	ADGRB3 (T173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514833	NM_001704.3(ADGRB3):c.565T>C (p.Cys189Arg)	ADGRB3 (C189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612379	NM_001704.3(ADGRB3):c.596C>T (p.Pro199Leu)	ADGRB3 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245534	NM_001704.3(ADGRB3):c.602A>G (p.His201Arg)	ADGRB3 (H201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315087	NM_001704.3(ADGRB3):c.632C>G (p.Ser211Trp)	ADGRB3 (S211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084369	NM_001704.3(ADGRB3):c.653T>C (p.Val218Ala)	ADGRB3 (V218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235226	NM_001704.3(ADGRB3):c.710C>T (p.Thr237Ile)	ADGRB3 (T237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084373	NM_001704.3(ADGRB3):c.719G>T (p.Cys240Phe)	ADGRB3 (C240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
Select item 2257181	NM_001704.3(ADGRB3):c.815A>T (p.Glu272Val)	ADGRB3 (E272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483279	NM_001704.3(ADGRB3):c.821G>C (p.Arg274Thr)	ADGRB3 (R274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620905	NM_001704.3(ADGRB3):c.880G>A (p.Val294Met)	ADGRB3 (V294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569720	NM_001704.3(ADGRB3):c.982G>A (p.Gly328Ser)	ADGRB3 (G328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257816	NM_001704.3(ADGRB3):c.1060T>C (p.Trp354Arg)	ADGRB3 (W354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084200	NM_001704.3(ADGRB3):c.1186C>G (p.Leu396Val)	ADGRB3 (L396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482251	NM_001704.3(ADGRB3):c.1286C>A (p.Ala429Glu)	ADGRB3 (A429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597177	NM_001704.3(ADGRB3):c.1435A>C (p.Ile479Leu)	ADGRB3 (I479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303676	NM_001704.3(ADGRB3):c.1484C>T (p.Thr495Met)	ADGRB3 (T495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286327	NM_001704.3(ADGRB3):c.1499G>A (p.Arg500Lys)	ADGRB3 (R500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366111	NM_001704.3(ADGRB3):c.1528C>A (p.Pro510Thr)	ADGRB3 (P510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303996	NM_001704.3(ADGRB3):c.1591G>A (p.Asp531Asn)	ADGRB3 (D531N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270722	NM_001704.3(ADGRB3):c.1642C>T (p.Arg548Cys)	ADGRB3 (R548C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270745	NM_001704.3(ADGRB3):c.1657C>G (p.Leu553Val)	ADGRB3 (L553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270753	NM_001704.3(ADGRB3):c.1683G>T (p.Gln561His)	ADGRB3 (Q561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084208	NM_001704.3(ADGRB3):c.1743G>T (p.Glu581Asp)	ADGRB3 (E581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225615	NM_001704.3(ADGRB3):c.1780G>A (p.Gly594Arg)	ADGRB3 (G594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084214	NM_001704.3(ADGRB3):c.1802C>T (p.Thr601Ile)	ADGRB3 (T601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270774	NM_001704.3(ADGRB3):c.1835A>G (p.Tyr612Cys)	ADGRB3 (Y612C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542756	NM_001704.3(ADGRB3):c.1975G>A (p.Glu659Lys)	ADGRB3 (E659K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598897	NM_001704.3(ADGRB3):c.1999A>G (p.Ile667Val)	ADGRB3 (I667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270702	NM_001704.3(ADGRB3):c.2047C>T (p.His683Tyr)	ADGRB3 (H683Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084218	NM_001704.3(ADGRB3):c.2050A>G (p.Ile684Val)	ADGRB3 (I684V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243694	NM_001704.3(ADGRB3):c.2087A>G (p.Tyr696Cys)	ADGRB3 (Y696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386095	NM_001704.3(ADGRB3):c.2185G>T (p.Val729Phe)	ADGRB3 (V729F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590493	NM_001704.3(ADGRB3):c.2290G>A (p.Ala764Thr)	ADGRB3 (A764T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599566	NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)	ADGRB3 (V765A)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2606982	NM_001704.3(ADGRB3):c.2323C>G (p.Pro775Ala)	ADGRB3 (P775A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084232	NM_001704.3(ADGRB3):c.2404T>C (p.Phe802Leu)	ADGRB3 (F802L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270711	NM_001704.3(ADGRB3):c.2485G>A (p.Glu829Lys)	ADGRB3 (E829K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228927	NM_001704.3(ADGRB3):c.2513G>A (p.Gly838Glu)	ADGRB3 (G838E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308490	NM_001704.3(ADGRB3):c.2543A>G (p.His848Arg)	ADGRB3 (H848R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084236	NM_001704.3(ADGRB3):c.2837C>T (p.Ala946Val)	ADGRB3 (A946V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218527	NM_001704.3(ADGRB3):c.2930G>A (p.Arg977Gln)	ADGRB3 (R977Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084244	NM_001704.3(ADGRB3):c.3033C>A (p.His1011Gln)	ADGRB3 (H1011Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307796	NM_001704.3(ADGRB3):c.3179A>T (p.His1060Leu)	ADGRB3 (H1060L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270763	NM_001704.3(ADGRB3):c.3187G>A (p.Gly1063Ser)	ADGRB3 (G1063S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232511	NM_001704.3(ADGRB3):c.3202C>A (p.Pro1068Thr)	ADGRB3 (P1068T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589302	NM_001704.3(ADGRB3):c.3476G>A (p.Arg1159Lys)	ADGRB3 (R1159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343416	NM_001704.3(ADGRB3):c.3482G>A (p.Arg1161Gln)	ADGRB3 (R1161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377770	NM_001704.3(ADGRB3):c.3694C>A (p.Pro1232Thr)	ADGRB3 (P1232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213663	NM_001704.3(ADGRB3):c.3790G>C (p.Glu1264Gln)	ADGRB3 (E1264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270734	NM_001704.3(ADGRB3):c.3859G>A (p.Asp1287Asn)	ADGRB3 (D1287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084269	NM_001704.3(ADGRB3):c.3892C>T (p.His1298Tyr)	ADGRB3 (H1298Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307382	NM_001704.3(ADGRB3):c.4033G>C (p.Val1345Leu)	ADGRB3 (V1345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084297	NM_001704.3(ADGRB3):c.4038C>A (p.Asn1346Lys)	ADGRB3 (N1346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461238	NM_001704.3(ADGRB3):c.4049A>G (p.Asn1350Ser)	ADGRB3 (N1350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084309	NM_001704.3(ADGRB3):c.4079A>G (p.Asn1360Ser)	ADGRB3 (N1360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270783	NM_001704.3(ADGRB3):c.4241G>C (p.Arg1414Thr)	ADGRB3 (R1414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599565	NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)	ADGRB3 (R1433K)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 3084318	NM_001704.3(ADGRB3):c.4304T>C (p.Met1435Thr)	ADGRB3 (M1435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084335	NM_001704.3(ADGRB3):c.4439C>T (p.Pro1480Leu)	ADGRB3 (P1480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622829	NM_001704.3(ADGRB3):c.4456A>G (p.Asn1486Asp)	ADGRB3 (N1486D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527250	GRCh37/hg19 6q12-13(chr6:69986815-70048832)	ADGRB3	Copy number loss	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1010763	NC_000006.11:g.(?_69802503)_(71012627_?)dup	ADGRB3, COL19A1 +2 more	Duplication	not provided	GUncertain significance
Select item 814825	GRCh37/hg19 6q12(chr6:67688082-69545877)x1	ERVH-3, ADGRB3	Copy number loss	not provided	GUncertain significance
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 83