ClinVar for Gene (Select 4482) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +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 3053794	NM_012331.5(MSRA):c.589G>A (p.Glu197Lys)	MSRA (E131K +3 more)	Single nucleotide variant (missense variant)	MSRA-related condition	GBenign
Select item 3044214	NM_012331.5(MSRA):c.676G>A (p.Gly226Ser)	MSRA (G160S +3 more)	Single nucleotide variant (missense variant)	MSRA-related condition	GLikely benign
Select item 3038398	NM_012331.5(MSRA):c.143-6_143-5del	MSRA	Deletion (intron variant)	MSRA-related condition	GLikely benign
Select item 3033555	NM_012331.5(MSRA):c.558C>T (p.His186=)	MSRA	Single nucleotide variant (synonymous variant)	MSRA-related condition	GLikely benign
Select item 2685300	GRCh37/hg19 8p23.1(chr8:9881411-9996705)x1	MSRA	Copy number loss	not provided	GUncertain significance
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	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 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	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2635008	NM_012331.5(MSRA):c.276A>G (p.Gln92=)	MSRA	Single nucleotide variant (synonymous variant +1 more)	MSRA-related condition	GUncertain significance
Select item 2621133	NM_012331.5(MSRA):c.661G>A (p.Gly221Ser)	MSRA (G181S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600948	NM_012331.5(MSRA):c.127C>G (p.Gln43Glu)	MSRA (Q43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2552985	NM_012331.5(MSRA):c.31C>T (p.Leu11Phe)	MSRA (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543167	NM_012331.5(MSRA):c.671G>A (p.Gly224Asp)	MSRA (G181D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485665	NM_012331.5(MSRA):c.40C>T (p.Leu14Phe)	MSRA (L14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406308	NM_012331.5(MSRA):c.423C>G (p.His141Gln)	MSRA (H141Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364113	NM_012331.5(MSRA):c.359G>A (p.Arg120Gln)	MSRA (R80Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362478	NM_012331.5(MSRA):c.650A>G (p.Asn217Ser)	MSRA (N177S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342069	NM_012331.5(MSRA):c.442C>T (p.Arg148Cys)	MSRA (R105C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340681	NM_012331.5(MSRA):c.118C>G (p.Arg40Gly)	MSRA (R40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340020	NM_012331.5(MSRA):c.151C>G (p.His51Asp)	MSRA (H51D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336606	NM_012331.5(MSRA):c.23C>T (p.Ala8Val)	MSRA (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316094	NM_012331.5(MSRA):c.299C>G (p.Thr100Ser)	MSRA (T100S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301979	NM_012331.5(MSRA):c.66G>C (p.Arg22Ser)	MSRA (R22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297995	NM_012331.5(MSRA):c.638G>T (p.Ser213Ile)	MSRA (S170I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286110	NM_012331.5(MSRA):c.275A>C (p.Gln92Pro)	MSRA (Q26P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262628	NM_012331.5(MSRA):c.16C>T (p.Arg6Trp)	MSRA (R6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233696	NM_012331.5(MSRA):c.575C>G (p.Thr192Ser)	MSRA (T152S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1808263	GRCh37/hg19 8p23.1(chr8:10014085-10079045)x1	MSRA	Copy number loss	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	BLK, C8orf74 +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +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)	BLK, C8orf74 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +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	NEIL2, PRSS55 +14 more	Duplication	not provided	GUncertain significance
Select item 1340124	GRCh37/hg19 8p23.1(chr8:9556847-10268805)x3	MIR124-1, MSRA +1 more	Copy number gain	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)	AP3M2, FAM86B1 +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	BLK, C8orf74 +23 more	Copy number loss	See cases	GPathogenic
Select item 815097	GRCh37/hg19 8p23.1(chr8:10087274-10201379)x3	MSRA	Copy number gain	not provided	GUncertain significance
Select item 815096	GRCh37/hg19 8p23.1(chr8:10025860-10561155)x3	PRSS55, RP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815095	GRCh37/hg19 8p23.1(chr8:9987099-10120304)x1	MSRA	Copy number loss	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	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	BLK, C8orf74 +43 more	Copy number gain	not provided	GPathogenic
Select item 735436	NM_012331.5(MSRA):c.280G>A (p.Gly94Ser)	MSRA (G28S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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	MICU3, MIR1234 +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	BLK, C8orf74 +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	AGPAT5, ANGPT2 +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	BLK, C8orf74 +24 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	AGPAT5, ANGPT2 +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 624471	GRCh37/hg19 8p23.1(chr8:9572088-10302429)x3	MIR124-1, MSRA +1 more	Copy number gain	not provided	GLikely benign
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	ADAM28, ADAM7 +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	AGPAT5, ANGPT2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	AGPAT5, ANGPT2 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MFHAS1, MIR124-1 +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	BLK, C8orf74 +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	BLK, C8orf74 +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
Select item 563536	GRCh37/hg19 8p23.1(chr8:8119295-11765719)x3	BLK, C8orf74 +20 more	Copy number gain	not provided	GPathogenic
Select item 563505	GRCh37/hg19 8p23.1(chr8:9952770-10603276)x3	MSRA, RP1L1 +4 more	Copy number gain	not provided	GLikely pathogenic
Select item 545372	NC_000008.11:g.(?_9998540)_(10117911_?)del	LOC129999845, LOC129999846 +1 more	Deletion	Autism	GLikely pathogenic
Select item 545352	NC_000008.11:g.(?_10252025)_(10336231_?)del	LOC129999848, LOC129999849 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic

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