GPBAR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 597942	NM_170699.3(GPBAR1):c.-1G>A	GPBAR1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3358501	NM_170699.3(GPBAR1):c.12C>T (p.Asn4=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 727294	NM_170699.3(GPBAR1):c.21C>G (p.Gly7=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3101206	NM_170699.3(GPBAR1):c.95A>G (p.Asn32Ser)	GPBAR1 (N32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101200	NM_170699.3(GPBAR1):c.112G>C (p.Gly38Arg)	GPBAR1 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 799221	NM_170699.3(GPBAR1):c.117C>T (p.Ile39=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473513	NM_170699.3(GPBAR1):c.128G>A (p.Arg43His)	GPBAR1 (R43H)	Single nucleotide variant (missense variant)	not specified +1 more	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 3033072	NM_170699.3(GPBAR1):c.151G>A (p.Gly51Ser)	GPBAR1 (G51S)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3029696	NM_170699.3(GPBAR1):c.153C>T (p.Gly51=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
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 3055018	NM_170699.3(GPBAR1):c.202T>C (p.Leu68=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 597339	NM_170699.3(GPBAR1):c.217_222delinsCA (p.Gly73fs)	GPBAR1 (G73fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3040876	NM_170699.3(GPBAR1):c.222G>A (p.Leu74=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
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 provided +1 more	GUncertain significance
Select item 3353245	NM_170699.3(GPBAR1):c.269T>C (p.Leu90Ser)	GPBAR1 (L90S)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3354498	NM_170699.3(GPBAR1):c.292T>C (p.Ser98Pro)	GPBAR1 (S98P)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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 2526540	NM_170699.3(GPBAR1):c.322G>C (p.Gly108Arg)	GPBAR1 (G108R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 594089	NM_170699.3(GPBAR1):c.324G>A (p.Gly108=)	GPBAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3352266	NM_170699.3(GPBAR1):c.328C>T (p.Arg110Cys)	GPBAR1 (R110C)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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 3357439	NM_170699.3(GPBAR1):c.336G>T (p.Met112Ile)	GPBAR1 (M112I)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GLikely benign
Select item 2337980	NM_170699.3(GPBAR1):c.338C>T (p.Ala113Val)	GPBAR1 (A113V)	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 3034116	NM_170699.3(GPBAR1):c.385C>G (p.Leu129Val)	GPBAR1 (L129V)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3061651	NM_170699.3(GPBAR1):c.393C>G (p.Thr131=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 3054906	NM_170699.3(GPBAR1):c.396G>A (p.Trp132Ter)	GPBAR1 (W132*)	Single nucleotide variant (nonsense)	GPBAR1-related disorder	GUncertain significance
Select item 3055350	NM_170699.3(GPBAR1):c.399T>A (p.Ala133=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 3101201	NM_170699.3(GPBAR1):c.425C>T (p.Pro142Leu)	GPBAR1 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054517	NM_170699.3(GPBAR1):c.426C>T (p.Pro142=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
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 3101203	NM_170699.3(GPBAR1):c.463T>C (p.Cys155Arg)	GPBAR1 (C155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3053966	NM_170699.3(GPBAR1):c.525G>A (p.Leu175=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
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 3101204	NM_170699.3(GPBAR1):c.535G>A (p.Gly179Ser)	GPBAR1 (G179S)	Single nucleotide variant (missense variant)	not specified	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 2275010	NM_170699.3(GPBAR1):c.562G>C (p.Val188Leu)	GPBAR1 (V188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 594764	NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)	GPBAR1 (V188M)	Single nucleotide variant (missense variant)	not provided +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 3036163	NM_170699.3(GPBAR1):c.601C>T (p.Arg201Trp)	GPBAR1 (R201W)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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 3053657	NM_170699.3(GPBAR1):c.606G>A (p.Leu202=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 3030349	NM_170699.3(GPBAR1):c.607G>A (p.Glu203Lys)	GPBAR1 (E203K)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 2629169	NM_170699.3(GPBAR1):c.608A>T (p.Glu203Val)	GPBAR1 (E203V)	Single nucleotide variant (missense variant)	GPBAR1-related disorder +1 more	GUncertain significance
Select item 3282098	NM_170699.3(GPBAR1):c.610C>T (p.Arg204Trp)	GPBAR1 (R204W)	Single nucleotide variant (missense variant)	not specified	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 2634991	NM_170699.3(GPBAR1):c.623G>A (p.Arg208His)	GPBAR1 (R208H)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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 3056324	NM_170699.3(GPBAR1):c.648G>C (p.Arg216=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GBenign
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 2634898	NM_170699.3(GPBAR1):c.686C>T (p.Ala229Val)	GPBAR1 (A229V)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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 3053295	NM_170699.3(GPBAR1):c.720C>T (p.Tyr240=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 3282099	NM_170699.3(GPBAR1):c.736C>T (p.Leu246Phe)	GPBAR1 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356876	NM_170699.3(GPBAR1):c.754G>A (p.Glu252Lys)	GPBAR1 (E252K)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3051374	NM_170699.3(GPBAR1):c.760C>T (p.Arg254Cys)	GPBAR1 (R254C)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3354746	NM_170699.3(GPBAR1):c.761G>A (p.Arg254His)	GPBAR1 (R254H)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	GUncertain significance
Select item 3101205	NM_170699.3(GPBAR1):c.811G>A (p.Ala271Thr)	GPBAR1 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030865	NM_170699.3(GPBAR1):c.813C>T (p.Ala271=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
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 3052024	NM_170699.3(GPBAR1):c.822G>A (p.Ala274=)	GPBAR1	Single nucleotide variant (synonymous variant)	GPBAR1-related disorder	GLikely benign
Select item 3352447	NM_170699.3(GPBAR1):c.832G>A (p.Val278Ile)	GPBAR1 (V278I)	Single nucleotide variant (missense variant)	GPBAR1-related disorder	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

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