focus pertusa - ClinVar

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Items: 85

The following term was not found in ClinVar: pertusa.
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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16120	NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	SLC2A1 (R468W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2627889	NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)	MMACHC (G105W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 2664496	NM_000350.3(ABCA4):c.6386+4A>G	ABCA4	Single nucleotide variant (intron variant)	Retinitis pigmentosa 19	GLikely pathogenic
Select item 2664261	NM_000350.3(ABCA4):c.3286_3287del (p.Ser1096fs)	ABCA4 (S1096fs)	Deletion (frameshift variant)	Retinitis pigmentosa 19	GPathogenic
Select item 2664262	NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)	ABCA4 (Y734* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2664260	NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)	ABCA4 (F754S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2004033	NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)	ABCA4 (L634P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 566608	NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)	ALK (T1343I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2671801	NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)	CYP1B1 (A31D)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6	GUncertain significance
Select item 45345	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1 (I437T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 more	GPathogenic/Likely pathogenic
Select item 1774	MSH2, 32-KB DEL, EX1-6	MSH2	Deletion	Muir-Torré syndrome +1 more	GPathogenic
Select item 68003	NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)	SCN5A (R1896W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +13 more	GUncertain significance
Select item 40229	NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)	CELSR3 (M2630I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 15906	NM_002070.4(GNAI2):c.600T>A (p.Phe200Leu)	GNAI2 (F200L +4 more)	Single nucleotide variant (missense variant)	Ventricular tachycardia, somatic	GPathogenic
Select item 1339129	NM_020754.4(ARHGAP31):c.3247G>A (p.Glu1083Lys)	ARHGAP31 (E1083K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 1	GUncertain significance
Select item 18056	NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	ANK2 (E1425G +37 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1702470	NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)	NEK1 (N298K)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 503588	GRCh37/hg19 4q34.2-34.3(chr4:177194007-177710725)x3	VEGFC, SPCS3	Copy number gain	See cases	GUncertain significance
Select item 25349	NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +7 more	GPathogenic/Likely pathogenic
Select item 816498	GRCh37/hg19 8p22(chr8:13356802-14660575)x4	C8orf48, DLC1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 24931	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET (K412E +13 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GPathogenic/Likely pathogenic
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +12 more	GPathogenic/Likely pathogenic
Select item 24958	NM_020975.6(RET):c.2647G>A (p.Ala883Thr)	RET (A629T +16 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic OOncogenic
Select item 1065528	NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro)	RBM20 (Q598P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 12600	NM_005343.4(HRAS):c.35G>T (p.Gly12Val)	HRAS, LRRC56 (G12V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 375961	NM_005343.4(HRAS):c.34G>C (p.Gly12Arg)	HRAS, LRRC56 (G12R)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GLikely pathogenic
Select item 521403	NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter)	KMT2A (R1151*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 450261	NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)	TNFRSF1A (G443V +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 811197	NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile)	TNFRSF1A (T253I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 811189	NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)	TNFRSF1A (H193Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 378735	NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)	TNFRSF1A (R312K +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 66293	NM_000424.4(KRT5):c.983A>T (p.Asp328Val)	KRT5 (D328V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047990	NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)	KRT5 (T321P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 623145	NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer)	KRT5	Deletion (nonsense)	Epidermolysis bullosa simplex	GLikely pathogenic
Select item 1047989	NM_000424.4(KRT5):c.771delG	KRT5	Deletion (splice acceptor variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 929393	GRCh37/hg19 12q13.13(chr12:51946335-52024220)x1	SCN8A	Copy number loss	See cases	GLikely pathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 126168	NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)	BRCA2 (A2730P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52910	NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)	BRCA2 (P3292L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 267177	NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)	BRCA2 (Y3308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52917	NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52916	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2 (Y3308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2571597	NM_001385012.1(NBEA):c.1747G>A (p.Gly583Ser)	NBEA (G583S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely benign
Select item 157571	NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs)	TGM5 (S604fs +1 more)	Indel (frameshift variant)	Acral peeling skin syndrome	GPathogenic
Select item 157569	NM_201631.4(TGM5):c.122T>C (p.Leu41Pro)	TGM5 (L41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338747	NM_002755.4(MAP2K1):c.395C>T (p.Ala132Val)	MAP2K1 (A110V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 929376	GRCh37/hg19 15q11.2(chr15:22750305-23164315)x3	CYFIP1, NIPA1 +2 more	Copy number gain	See cases	GPathogenic
Select item 503577	GRCh37/hg19 15q13.3(chr15:32018731-32514341)x3	CHRNA7	Copy number gain	See cases	GUncertain significance
Select item 148327	GRCh38/hg38 16p13.3(chr16:6717241-7012011)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 929358	GRCh37/hg19 16q23.3(chr16:82181608-83669641)x3	CDH13, LOC101928417 +1 more	Copy number gain	See cases	GUncertain significance
Select item 265442	NM_001042492.3(NF1):c.204+1G>A	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 488814	NM_001042492.3(NF1):c.731-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 237610	NM_001042492.3(NF1):c.889-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic
Select item 457880	NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)	NF1	Microsatellite (nonsense)	not provided +4 more	GPathogenic
Select item 346	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1 (Q514fs)	Deletion (frameshift variant)	Neurofibromatosis-Noonan syndrome +5 more	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 2921216	NM_001042492.3(NF1):c.2251+2T>C	NF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 810859	NM_001042492.3(NF1):c.5609+5G>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1048027	NM_000526.5(KRT14):c.1274+5G>C	KRT14	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66322	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	KRT14 (Y415C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66316	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	KRT14 (E411del)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	KRT14 (L408Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	KRT14 (L402R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	KRT14 (E382*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 66375	NM_000526.5(KRT14):c.749del (p.Lys250fs)	KRT14 (K250fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66353	NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)	KRT14 (Y129D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66339	NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)	KRT14 (K116*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 6822	NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	RAD51C (R258H)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 446360	GRCh37/hg19 17q12(chr17:34815551-36244358)x1	AATF, ACACA +13 more	Copy number loss	See cases	GPathogenic
Select item 13417	NM_000371.4(TTR):c.148G>A (p.Val50Met)	TTR (V50M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GPathogenic
Select item 417784	NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	NACC1 (R298W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 992814	NM_145046.5(CALR3):c.697C>G (p.Leu233Val)	CALR3 (L233V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 984881	NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)	CSNK2A1 (R176W +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2428224	NM_006767.4(LZTR1):c.540del (p.Thr181fs)	LZTR1 (T181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 929312	GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1	SLC25A1, SLC7A4 +45 more	Copy number loss	See cases	GPathogenic
Select item 148817	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1	AKAP17A, ARSD +106 more	Copy number loss	See cases	GPathogenic
Select item 225760	NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	HNRNPH2, RPL36A-HNRNPH2 (R206W)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type +6 more	GPathogenic/Likely pathogenic
Select item 11696	NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)	SLC6A8 (R514* +2 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenic FDA Recognized database
Select item 3148869	GRCh37/hg19 Xp21.2-21.1(chrX:31445412-31542339)x0	DMD	Copy number loss	See cases	GPathogenic
Select item 816523	GRCh37/hg19 Xp22.31(chrX:7906287-8432715)x2	VCX2	Copy number gain	See cases	GLikely benign

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Items: 85