ClinVar for Gene (Select 203074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310734	NM_198464.4(PRSS55):c.536C>T (p.Thr179Met)	PRSS51, PRSS55 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310733	NM_198464.4(PRSS55):c.997C>G (p.Pro333Ala)	PRSS51, PRSS55 (P333A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310732	NM_198464.4(PRSS55):c.917T>G (p.Phe306Cys)	PRSS51, PRSS55 (F306C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310731	NM_198464.4(PRSS55):c.704G>C (p.Cys235Ser)	PRSS51, PRSS55 (C235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310730	NM_198464.4(PRSS55):c.446A>G (p.Lys149Arg)	PRSS51, PRSS55 (K149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245618	NC_000008.10:g.(?_10381459)_(10469152_?)del	PRSS51, PRSS55 +1 more	Deletion	not provided	GUncertain significance
Select item 3245616	NC_000008.10:g.(?_10285638)_(10480711_?)del	MSRA, PRSS51 +2 more	Deletion	not provided	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3219929	NM_198464.4(PRSS55):c.974C>T (p.Ser325Leu)	PRSS51, PRSS55 (S325L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219928	NM_198464.4(PRSS55):c.650T>C (p.Met217Thr)	PRSS51, PRSS55 (M217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219927	NM_198464.4(PRSS55):c.650T>A (p.Met217Lys)	PRSS51, PRSS55 (M217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219926	NM_198464.4(PRSS55):c.640A>G (p.Met214Val)	PRSS51, PRSS55 (M214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219925	NM_198464.4(PRSS55):c.560G>A (p.Arg187His)	PRSS51, PRSS55 (R187H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219924	NM_198464.4(PRSS55):c.343C>G (p.Leu115Val)	PRSS51, PRSS55 (L115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219923	NM_198464.4(PRSS55):c.310C>G (p.Leu104Val)	PRSS51, PRSS55 (L104V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219922	NM_198464.4(PRSS55):c.206C>T (p.Thr69Ile)	PRSS51, PRSS55 (T69I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219921	NM_198464.4(PRSS55):c.143G>T (p.Ser48Ile)	PRSS51, PRSS55 (S48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685298	GRCh37/hg19 8p23.1(chr8:9208205-10501320)x1	MIR124-1, MSRA +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2614568	NM_198464.4(PRSS55):c.770C>T (p.Thr257Ile)	PRSS51, PRSS55 (T257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611292	NM_198464.4(PRSS55):c.381C>T (p.Asn127=)	PRSS51, PRSS55	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2608053	NM_198464.4(PRSS55):c.860C>T (p.Ser287Leu)	PRSS51, PRSS55 (S287L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2602735	NM_198464.4(PRSS55):c.306G>C (p.Trp102Cys)	PRSS51, PRSS55 (W102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599257	NM_198464.4(PRSS55):c.885C>G (p.Ile295Met)	PRSS51, PRSS55 (I295M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591141	NM_198464.4(PRSS55):c.556T>C (p.Trp186Arg)	PRSS51, PRSS55 (W186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588139	NM_198464.4(PRSS55):c.367G>A (p.Val123Met)	PRSS51, PRSS55 (V123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2563094	NM_198464.4(PRSS55):c.382G>A (p.Asp128Asn)	PRSS51, PRSS55 (D128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533230	NM_198464.4(PRSS55):c.157T>C (p.Cys53Arg)	PRSS51, PRSS55 (C53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527418	NM_198464.4(PRSS55):c.1004C>G (p.Ser335Cys)	PRSS51, PRSS55 (S335C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507729	NM_198464.4(PRSS55):c.902T>C (p.Leu301Pro)	PRSS51, PRSS55 (L301P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482641	NM_198464.4(PRSS55):c.61C>T (p.Arg21Trp)	PRSS51, PRSS55 (R21W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468032	NM_198464.4(PRSS55):c.76G>A (p.Glu26Lys)	PRSS51, PRSS55 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462049	NM_198464.4(PRSS55):c.317C>T (p.Ala106Val)	PRSS51, PRSS55 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394781	NM_198464.4(PRSS55):c.439G>A (p.Asp147Asn)	PRSS51, PRSS55 (D147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392686	NM_198464.4(PRSS55):c.190C>T (p.Arg64Trp)	PRSS51, PRSS55 (R64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376909	NM_198464.4(PRSS55):c.466G>A (p.Asp156Asn)	PRSS51, PRSS55 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359708	NM_198464.4(PRSS55):c.536C>G (p.Thr179Arg)	PRSS51, PRSS55 (T179R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349841	NM_198464.4(PRSS55):c.172A>G (p.Ile58Val)	PRSS51, PRSS55 (I58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342961	NM_198464.4(PRSS55):c.982C>T (p.Pro328Ser)	PRSS51, PRSS55 (P328S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338312	NM_198464.4(PRSS55):c.127C>A (p.Pro43Thr)	PRSS51, PRSS55 (P43T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2314985	NM_198464.4(PRSS55):c.982C>G (p.Pro328Ala)	PRSS51, PRSS55 (P328A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306134	NM_198464.4(PRSS55):c.675G>T (p.Met225Ile)	PRSS51, PRSS55 (M225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281884	NM_198464.4(PRSS55):c.663G>C (p.Glu221Asp)	PRSS51, PRSS55 (E221D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274900	NM_198464.4(PRSS55):c.103G>A (p.Ala35Thr)	PRSS51, PRSS55 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269931	NM_198464.4(PRSS55):c.258G>C (p.Gln86His)	PRSS51, PRSS55 (Q86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228022	NM_198464.4(PRSS55):c.407T>C (p.Ile136Thr)	PRSS51, PRSS55 (I136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	C8orf74, RP1L1 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1466701	NC_000008.10:g.(?_9912027)_(11710963_?)del	BLK, C8orf74 +14 more	Deletion	not provided	GUncertain significance
Select item 1412927	NC_000008.10:g.(?_10065323)_(10480711_?)dup	MSRA, PRSS51 +2 more	Duplication	not provided	GUncertain significance
Select item 1410533	NC_000008.10:g.(?_9912027)_(11710963_?)dup	BLK, C8orf74 +14 more	Duplication	not provided	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 973603	GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1	PINX1, PRSS51 +8 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 929827	GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	NEIL2, PINX1 +23 more	Copy number loss	See cases	GPathogenic
Select item 815096	GRCh37/hg19 8p23.1(chr8:10025860-10561155)x3	PRSS55, RP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815087	GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	MIR124-1, MSRA +14 more	Copy number loss	not provided	GPathogenic
Select item 815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	C8orf74, CLDN23 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	NEIL2, PINX1 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 713114	NM_198464.4(PRSS55):c.936G>A (p.Arg312=)	PRSS51, PRSS55	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688534	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic
Select item 688199	GRCh37/hg19 8p23.1(chr8:9932796-10409049)x3	MSRA, PRSS51 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687652	GRCh37/hg19 8p23.1(chr8:8093065-11882913)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 687528	GRCh37/hg19 8p23.1(chr8:8093169-11888779)x3	PRSS51, PRSS55 +23 more	Copy number gain	not provided	GPathogenic
Select item 687158	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 686805	GRCh37/hg19 8p23.1(chr8:10128928-10615711)x1	C8orf74, MSRA +4 more	Copy number loss	not provided	GUncertain significance
Select item 686541	GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 686056	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 635939	Single allele	FDFT1, NEIL2 +24 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625634	GRCh37/hg19 8p23.1(chr8:8403375-11805960)	BLK, C8orf74 +20 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563547	GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 563541	GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 563539	GRCh37/hg19 8p23.1(chr8:8093065-11945855)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 563538	GRCh37/hg19 8p23.1(chr8:8093169-11935465)x1	DEFB135, PRSS55 +23 more	Copy number loss	not provided	GPathogenic
Select item 563537	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic

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