"Eurofins Ntd Llc (ga)"[submitter] AND "GPBAR1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 597942	NM_170699.3(GPBAR1):c.-1G>A	GPBAR1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 595677	NM_170699.3(GPBAR1):c.34C>G (p.Pro12Ala)	GPBAR1 (P12A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597676	NM_170699.3(GPBAR1):c.70C>T (p.Leu24=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 597240	NM_170699.3(GPBAR1):c.73G>A (p.Ala25Thr)	GPBAR1 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595772	NM_170699.3(GPBAR1):c.90C>G (p.Thr30=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500869	NM_170699.3(GPBAR1):c.93G>A (p.Ala31=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593164	NM_170699.3(GPBAR1):c.137G>A (p.Arg46His)	GPBAR1 (R46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500565	NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del)	GPBAR1 (F54del)	Microsatellite (inframe_deletion)	not specified	GLikely benign
Select item 500823	NM_170699.3(GPBAR1):c.189C>T (p.Leu63=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594350	NM_170699.3(GPBAR1):c.196C>G (p.Leu66Val)	GPBAR1 (L66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597339	NM_170699.3(GPBAR1):c.217_222delinsCA (p.Gly73fs)	GPBAR1 (G73fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 594818	NM_170699.3(GPBAR1):c.235C>T (p.Arg79Cys)	GPBAR1 (R79C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594017	NM_170699.3(GPBAR1):c.238C>T (p.Arg80Trp)	GPBAR1 (R80W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502518	NM_170699.3(GPBAR1):c.239G>A (p.Arg80Gln)	GPBAR1 (R80Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501614	NM_170699.3(GPBAR1):c.262G>A (p.Val88Ile)	GPBAR1 (V88I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 595971	NM_170699.3(GPBAR1):c.293C>T (p.Ser98Phe)	GPBAR1 (S98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594057	NM_170699.3(GPBAR1):c.321C>T (p.His107=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594089	NM_170699.3(GPBAR1):c.324G>A (p.Gly108=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501725	NM_170699.3(GPBAR1):c.329G>A (p.Arg110His)	GPBAR1 (R110H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597155	NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501141	NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)	GPBAR1 (M112V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 593416	NM_170699.3(GPBAR1):c.340G>A (p.Val114Ile)	GPBAR1 (V114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595235	NM_170699.3(GPBAR1):c.346A>G (p.Arg116Gly)	GPBAR1 (R116G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500857	NM_170699.3(GPBAR1):c.373C>T (p.Arg125Trp)	GPBAR1 (R125W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595975	NM_170699.3(GPBAR1):c.427G>A (p.Ala143Thr)	GPBAR1 (A143T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593420	NM_170699.3(GPBAR1):c.442C>T (p.His148Tyr)	GPBAR1 (H148Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500570	NM_170699.3(GPBAR1):c.458C>T (p.Ala153Val)	GPBAR1 (A153V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 501323	NM_170699.3(GPBAR1):c.505G>A (p.Glu169Lys)	GPBAR1 (E169K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 594316	NM_170699.3(GPBAR1):c.512A>G (p.Tyr171Cys)	GPBAR1 (Y171C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594816	NM_170699.3(GPBAR1):c.517C>T (p.Leu173Phe)	GPBAR1 (L173F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500566	NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595270	NM_170699.3(GPBAR1):c.531C>T (p.Ala177=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501085	NM_170699.3(GPBAR1):c.559C>T (p.Arg187Cys)	GPBAR1 (R187C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597630	NM_170699.3(GPBAR1):c.560G>A (p.Arg187His)	GPBAR1 (R187H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594764	NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)	GPBAR1 (V188M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 502791	NM_170699.3(GPBAR1):c.580C>T (p.Arg194Cys)	GPBAR1 (R194C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595902	NM_170699.3(GPBAR1):c.584A>C (p.Gln195Pro)	GPBAR1 (Q195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596907	NM_170699.3(GPBAR1):c.602G>A (p.Arg201Gln)	GPBAR1 (R201Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596462	NM_170699.3(GPBAR1):c.611G>A (p.Arg204Gln)	GPBAR1 (R204Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596027	NM_170699.3(GPBAR1):c.636C>T (p.Ser212=)	GPBAR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 594771	NM_170699.3(GPBAR1):c.637G>A (p.Ala213Thr)	GPBAR1 (A213T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595380	NM_170699.3(GPBAR1):c.647G>A (p.Arg216Gln)	GPBAR1 (R216Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500437	NM_170699.3(GPBAR1):c.649G>C (p.Ala217Pro)	GPBAR1 (A217P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 598408	NM_170699.3(GPBAR1):c.658T>C (p.Trp220Arg)	GPBAR1 (W220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500237	NM_170699.3(GPBAR1):c.699C>T (p.Phe233=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 594877	NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val)	GPBAR1 (G234V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595885	NM_170699.3(GPBAR1):c.718T>G (p.Tyr240Asp)	GPBAR1 (Y240D)	Single nucleotide variant (missense variant)	GPBAR1-related disorder +2 more	GUncertain significance
Select item 593144	NM_170699.3(GPBAR1):c.814A>G (p.Ser272Gly)	GPBAR1 (S272G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598702	NM_170699.3(GPBAR1):c.845del (p.Leu282fs)	GPBAR1 (L282fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 594426	NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)	GPBAR1 (R286H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597491	NM_170699.3(GPBAR1):c.873G>C (p.Trp291Cys)	GPBAR1 (W291C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596948	NM_170699.3(GPBAR1):c.882C>T (p.Ala294=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 598386	NM_170699.3(GPBAR1):c.903G>A (p.Gly301=)	GPBAR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 598447	NM_170699.3(GPBAR1):c.934G>A (p.Gly312Ser)	GPBAR1 (G312S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502022	NM_170699.3(GPBAR1):c.975C>A (p.Val325=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500333	NM_170699.3(GPBAR1):c.975C>T (p.Val325=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 56