3415[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	LOC129998966, LOC129998967 +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 16602	NM_000799.3(EPO):c.-1306C>A	EPO	Single nucleotide variant	Microvascular complications of diabetes, susceptibility to, 2	Grisk factor
Select item 2692116	NM_000799.4(EPO):c.-203C>A	EPO	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3056168	NM_000799.4(EPO):c.-152_-131del	EPO	Deletion (5 prime UTR variant)	EPO-related disorder	GLikely benign
Select item 3043637	NM_000799.4(EPO):c.9G>A (p.Val3=)	EPO	Single nucleotide variant (synonymous variant)	EPO-related disorder	GLikely benign
Select item 739804	NM_000799.4(EPO):c.13+10C>T	EPO	Single nucleotide variant (intron variant)	EPO-related disorder +1 more	GBenign/Likely benign
Select item 2441272	NM_000799.4(EPO):c.14-1G>C	EPO	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2236168	NM_000799.4(EPO):c.16T>C (p.Cys6Arg)	EPO (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634757	NM_000799.4(EPO):c.19C>T (p.Pro7Ser)	EPO (P7S)	Single nucleotide variant (missense variant)	EPO-related disorder	GUncertain significance
Select item 496594	NM_000799.4(EPO):c.20del (p.Pro7fs)	EPO (P7fs)	Deletion (frameshift variant)	Erythrocytosis, familial, 5	GPathogenic
Select item 496593	NM_000799.4(EPO):c.33del (p.Trp11fs)	EPO (W11fs)	Deletion (frameshift variant)	Erythrocytosis, familial, 5	GPathogenic
Select item 716882	NM_000799.4(EPO):c.54G>A (p.Ser18=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219620	NM_000799.4(EPO):c.82G>A (p.Ala28Thr)	EPO (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782270	NM_000799.4(EPO):c.108C>T (p.Ser36=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 796251	NM_000799.4(EPO):c.147C>G (p.Ala49=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781763	NM_000799.4(EPO):c.171T>C (p.Ala57=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323206	NM_000799.4(EPO):c.175C>T (p.His59Tyr)	EPO (H59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715578	NM_000799.4(EPO):c.208G>A (p.Asp70Asn)	EPO (D70N)	Single nucleotide variant (missense variant)	EPO-related disorder +1 more	GLikely benign
Select item 2495799	NM_000799.4(EPO):c.226T>C (p.Tyr76His)	EPO (Y76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716909	NM_000799.4(EPO):c.237G>A (p.Lys79=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271500	NM_000799.4(EPO):c.246+24del	EPO	Deletion (intron variant)	not provided	GBenign
Select item 1231689	NM_000799.4(EPO):c.247-142_247-136del	EPO	Deletion (intron variant)	not provided	GBenign
Select item 1250657	NM_000799.4(EPO):c.247-136C>T	EPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241878	NM_000799.4(EPO):c.247-66G>A	EPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718151	NM_000799.4(EPO):c.250G>A (p.Gly84Arg)	EPO (G84R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 733903	NM_000799.4(EPO):c.261C>T (p.Ala87=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441271	NM_000799.4(EPO):c.286C>G (p.Leu96Val)	EPO (L96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773891	NM_000799.4(EPO):c.341C>T (p.Pro114Leu)	EPO (P114L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3036860	NM_000799.4(EPO):c.348G>A (p.Glu116=)	EPO	Single nucleotide variant (synonymous variant)	EPO-related disorder	GLikely benign
Select item 2657763	NM_000799.4(EPO):c.409C>T (p.Arg137Trp)	EPO (R137W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759388	NM_000799.4(EPO):c.427-9C>T	EPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032156	NM_000799.4(EPO):c.439T>C (p.Ser147Pro)	EPO (S147P)	Single nucleotide variant (missense variant)	EPO-related disorder	GUncertain significance
Select item 783005	NM_000799.4(EPO):c.453G>A (p.Ala151=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740707	NM_000799.4(EPO):c.459A>G (p.Ser153=)	EPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089786	NM_000799.4(EPO):c.466C>G (p.Pro156Ala)	EPO (P156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716910	NM_000799.4(EPO):c.496C>T (p.Arg166Cys)	EPO (R166C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2390635	NM_000799.4(EPO):c.521A>G (p.Asn174Ser)	EPO (N174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496595	NM_000799.4(EPO):c.530G>A (p.Arg177Gln)	EPO (R177Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia-like	GPathogenic
Select item 2366371	NM_000799.4(EPO):c.559G>T (p.Ala187Ser)	EPO (A187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617264	NM_000799.4(EPO):c.569C>T (p.Thr190Ile)	EPO (T190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056668	NM_000799.4(EPO):c.*8del	EPO	Deletion (3 prime UTR variant)	EPO-related disorder	GLikely benign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	MOSPD3, PPP1R35 +75 more	Deletion	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686646	GRCh37/hg19 7q22.1(chr7:100312504-100411701)x3	EPHB4, EPO +1 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 66