BLVRA[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 2118005	NM_000712.4(BLVRA):c.7G>A (p.Ala3Thr)	BLVRA (A3T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2965983	NM_000712.4(BLVRA):c.12+19C>T	BLVRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142366	NM_000712.4(BLVRA):c.13C>A (p.Pro5Thr)	BLVRA (P5T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2175440	NM_000712.4(BLVRA):c.15C>T (p.Pro5=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209147	NM_000712.4(BLVRA):c.31G>A (p.Val11Met)	BLVRA (V11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 29612	NM_000712.4(BLVRA):c.52C>T (p.Arg18Ter)	BLVRA (R18*)	Single nucleotide variant (nonsense)	Hyperbiliverdinemia	GPathogenic
Select item 3048619	NM_000712.4(BLVRA):c.63C>T (p.Ser21=)	BLVRA	Single nucleotide variant (synonymous variant)	BLVRA-related disorder	GLikely benign
Select item 2032797	NM_000712.4(BLVRA):c.65T>C (p.Val22Ala)	BLVRA (V22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965867	NM_000712.4(BLVRA):c.68G>A (p.Arg23Gln)	BLVRA (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055170	NM_000712.4(BLVRA):c.105G>A (p.Ala35=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2705820	NM_000712.4(BLVRA):c.109C>G (p.Leu37Val)	BLVRA (L37V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 29613	NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter)	BLVRA (S44*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2788243	NM_000712.4(BLVRA):c.134+11A>G	BLVRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988983	NM_000712.4(BLVRA):c.135-13T>C	BLVRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2532720	NM_000712.4(BLVRA):c.152T>C (p.Ile51Thr)	BLVRA (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2142367	NM_000712.4(BLVRA):c.154G>A (p.Asp52Asn)	BLVRA (D52N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029936	NM_000712.4(BLVRA):c.157G>T (p.Gly53Ter)	BLVRA (G53*)	Single nucleotide variant (nonsense)	Hyperbiliverdinemia	GLikely pathogenic
Select item 775081	NM_000712.4(BLVRA):c.167A>G (p.Gln56Arg)	BLVRA (Q56R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2118007	NM_000712.4(BLVRA):c.175T>C (p.Leu59=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2060837	NM_000712.4(BLVRA):c.215A>G (p.Tyr72Cys)	BLVRA (Y72C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2855873	NM_000712.4(BLVRA):c.216T>C (p.Tyr72=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707348	NM_000712.4(BLVRA):c.246C>G (p.Asp82Glu)	BLVRA (D82E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724517	NM_000712.4(BLVRA):c.246C>T (p.Asp82=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1987531	NM_000712.4(BLVRA):c.255-11G>A	BLVRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3134436	NM_000712.4(BLVRA):c.257A>C (p.Gln86Pro)	BLVRA (Q86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2904170	NM_000712.4(BLVRA):c.261C>T (p.Phe87=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134437	NM_000712.4(BLVRA):c.280G>A (p.Val94Ile)	BLVRA (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043603	NM_000712.4(BLVRA):c.314C>T (p.Ala105Val)	BLVRA (A105V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2045043	NM_000712.4(BLVRA):c.353-4A>G	BLVRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063923	NM_000712.4(BLVRA):c.400G>A (p.Ala134Thr)	BLVRA (A134T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2707995	NM_000712.4(BLVRA):c.423G>T (p.Val141=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987461	NM_000712.4(BLVRA):c.460+12G>A	BLVRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2556484	NM_000712.4(BLVRA):c.464G>T (p.Gly155Val)	BLVRA (G155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292842	NM_000712.4(BLVRA):c.467C>A (p.Pro156Gln)	BLVRA (P156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536935	NM_000712.4(BLVRA):c.473A>G (p.Glu158Gly)	BLVRA (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594515	NM_000712.4(BLVRA):c.481C>T (p.Arg161Trp)	BLVRA (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2710715	NM_000712.4(BLVRA):c.482G>A (p.Arg161Gln)	BLVRA (R161Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334267	NM_000712.4(BLVRA):c.505G>A (p.Gly169Ser)	BLVRA (G169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134438	NM_000712.4(BLVRA):c.508A>C (p.Ile170Leu)	BLVRA (I170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210182	NM_000712.4(BLVRA):c.527T>C (p.Leu176Pro)	BLVRA (L176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906298	NM_000712.4(BLVRA):c.578G>A (p.Arg193Gln)	BLVRA (R193Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992565	NM_000712.4(BLVRA):c.609G>A (p.Val203=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2734997	NM_000712.4(BLVRA):c.632+3A>G	BLVRA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1992567	NM_000712.4(BLVRA):c.660A>G (p.Gly220=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134439	NM_000712.4(BLVRA):c.674G>A (p.Arg225Gln)	BLVRA (R225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291744	NM_000712.4(BLVRA):c.703T>G (p.Ser235Ala)	BLVRA (S235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2044158	NM_000712.4(BLVRA):c.814G>A (p.Ala272Thr)	BLVRA (A272T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134440	NM_000712.4(BLVRA):c.881C>T (p.Ser294Leu)	BLVRA (S294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2750562	NM_000712.4(BLVRA):c.891A>G (p.Ter297=)	BLVRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 979755	GRCh37/hg19 7p13(chr7:43694838-43809081)x1	COA1, BLVRA	Copy number loss	not provided	GUncertain significance
Select item 814968	GRCh37/hg19 7p13(chr7:43534614-43819386)x3	BLVRA, STK17A +2 more	Copy number gain	not provided	GUncertain significance
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 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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	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: 75