didymocarpus martin - ClinVar - NCBI

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The following term was not found in ClinVar: didymocarpus.
Showing results for Didymocarpus martini. Search instead for Didymocarpus martini (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64462	NM_004070.4(CLCNKA):c.74G>A (p.Cys25Tyr)	CLCNKA (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64463	NM_004070.4(CLCNKA):c.753G>C (p.Arg251=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64464	NM_004070.4(CLCNKA):c.754C>T (p.Leu252Phe)	CLCNKA, LOC106501712 (L252F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64459	NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)	CLCNKA, LOC106501712 (D383Y +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 64460	NM_004070.4(CLCNKA):c.1327G>A (p.Ala443Thr)	CLCNKA, LOC106501712 (A443T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64461	NM_004070.4(CLCNKA):c.1977A>G (p.Thr659=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64380	NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)	CLCNKB (R8H)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64381	NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu)	CLCNKB (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7593	NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	CLCNKB, LOC106501713 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 64377	NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr)	CLCNKB, LOC106501713 (A559T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64378	NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)	CLCNKB, LOC106501713 (F648L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64379	NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)	CLCNKB, LOC106501713 (V668L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 374878	NM_016011.5(MECR):c.695G>A (p.Gly232Glu)	MECR (G232E +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 140454	NM_001905.4(CTPS1):c.1692-1G>C	CTPS1	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GPathogenic
Select item 64478	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	CLDN19 (V224E)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 560599	NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)	CLDN19 (G130C)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 64481	NM_148960.3(CLDN19):c.301G>A (p.Gly101Ser)	CLDN19 (G101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501010	NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)	CLDN19 (Q61*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 64480	NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys)	CLDN19 (W51C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64479	NM_148960.3(CLDN19):c.128C>T (p.Ala43Val)	CLDN19 (A43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19 (G20D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 371697	NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	CPT2, LOC129930561 (S38fs)	Microsatellite (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Abnormality of the musculature +7 more	GPathogenic/Likely pathogenic
Select item 8956	NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	CPT2 (Y628S +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GPathogenic/Likely pathogenic
Select item 590851	NM_057176.3(BSND):c.452del (p.Pro151fs)	BSND (P151fs)	Deletion (frameshift variant)	Bartter disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 2875	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9 (D249Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +7 more	GConflicting classifications of pathogenicity
Select item 91866	NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)	ANGPTL3, DOCK7 (N121fs)	Microsatellite (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 23 +2 more	GPathogenic
Select item 372792	NM_001854.4(COL11A1):c.1630-2del	COL11A1	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 64506	NM_001201325.2(PDZK1):c.62G>A (p.Gly21Asp)	PDZK1 (G21D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4-AS2, ADAMTSL4 (Q256fs)	Deletion	Ectopia lentis 2, isolated, autosomal recessive +3 more	GPathogenic
Select item 39556	NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs)	ADAMTSL4, ADAMTSL4-AS2 (R276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 39557	NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	ADAMTSL4-AS2, ADAMTSL4 (R670* +2 more)	Single nucleotide variant (nonsense)	Ectopia lentis et pupillae +2 more	GPathogenic/Likely pathogenic
Select item 224834	NM_001937.5(DPT):c.544C>T (p.Arg182Cys)	DPT (R182C)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GPathogenic
Select item 242274	NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)	MYOC (Y371H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2147511	NM_000186.4(CFH):c.2879T>C (p.Phe960Ser)	CFH (F960S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812570	NM_001005337.3(PKP1):c.1233-2A>G	PKP1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GPathogenic
Select item 1303469	NM_006618.5(KDM5B):c.1835G>A (p.Arg612Gln)	KDM5B (R567Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 48396	NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	USH2A (S4111F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 846609	NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)	USH2A (G4032R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555604	NM_206933.4(USH2A):c.9258+1G>T	USH2A	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 558501	NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	USH2A (R2323*)	Single nucleotide variant (nonsense)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 48537	NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)	USH2A, USH2A-AS2 (G1871D)	Single nucleotide variant (missense variant)	Childhood onset hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 488656	NM_020779.4(WDR35):c.143-18T>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly	GPathogenic
Select item 440513	NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	APOB (Y4343fs)	Microsatellite (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 7735	NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	CYP1B1 (E387K)	Single nucleotide variant (missense variant)	Congenital glaucoma +6 more	GPathogenic/Likely pathogenic
Select item 90874	NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)	MSH2 (M688R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 90875	NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)	MSH2 (M688I +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89213	NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)	MSH6 (E416fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 140836	NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)	MSH6 (R761G +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 184389	NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)	MSH6 (R1334W +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 14384	NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)	STON1-GTF2A1L, LHCGR (D578G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 12742	NM_001768.7(CD8A):c.331G>A (p.Gly111Ser)	CD8A (G111S)	Single nucleotide variant (missense variant +1 more)	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GPathogenic
Select item 524196	NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu)	NCAPH (P243L +3 more)	Single nucleotide variant (missense variant)	Microcephaly 23, primary, autosomal recessive	GPathogenic
Select item 331076	NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr)	ERCC3 (A694T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum group B +2 more	GConflicting classifications of pathogenicity
Select item 12882	NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)	LOC102724058, SCN1A (R1648H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1064582	NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	SCN1A (P346L)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GLikely pathogenic
Select item 548952	NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn)	FASTKD1 (Y744N +3 more)	Single nucleotide variant (missense variant +1 more)	Glaucoma 1, open angle, B	GPathogenic
Select item 7854	NM_002500.5(NEUROD1):c.616dup (p.His206fs)	NEUROD1 (H206fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 101388	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 14233	NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)	NDUFS1 (L231V +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 142119	NM_000465.4(BARD1):c.2192G>A (p.Arg731His)	BARD1 (R731H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185459	NM_000465.4(BARD1):c.152C>T (p.Ser51Leu)	BARD1 (S51L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 64553	NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly)	SLC4A3 (D49G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64557	NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu)	SLC4A3 (P124L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64558	NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr)	SLC4A3 (P222T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64559	NM_005070.4(SLC4A3):c.681C>T (p.Ala227=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64554	NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met)	SLC4A3 (V745M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64555	NM_005070.4(SLC4A3):c.2784G>A (p.Gly928=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64556	NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 253	NM_004628.5(XPC):c.1001C>A (p.Pro334His)	XPC (P334H +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +3 more	GBenign/Likely benign
Select item 429858	NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)	CRTAP (L151V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1510318	NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)	CRTAP (L151P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 561170	NM_000249.4(MLH1):c.117-1G>T	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90319	NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	MLH1 (R226L +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 89737	NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)	MLH1 (R474Q +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 89928	NM_000249.4(MLH1):c.1896+2T>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90068	NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	MLH1 (W714* +8 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 64397	NM_000316.3(PTH1R):c.124C>T (p.His42Tyr)	PTH1R (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64399	NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys)	PTH1R (R106C)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GLikely benign
Select item 64400	NM_000316.3(PTH1R):c.526A>T (p.Asn176Tyr)	PTH1R (N176Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64401	NM_000316.3(PTH1R):c.678G>T (p.Leu226=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64402	NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser)	PTH1R (P269S)	Single nucleotide variant (missense variant)	Eiken syndrome +3 more	GUncertain significance
Select item 64403	NM_000316.3(PTH1R):c.875T>C (p.Leu292Pro)	PTH1R (L292P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64396	NM_000316.3(PTH1R):c.1155C>T (p.Leu385=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64398	NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met)	PTH1R (T435M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 64455	NM_022911.3(SLC26A6):c.2081A>T (p.His694Leu)	SLC26A6 (H673L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64454	NM_022911.3(SLC26A6):c.1902C>T (p.Ser634=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64453	NM_022911.3(SLC26A6):c.1653T>A (p.Phe551Leu)	SLC26A6 (F530L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64452	NM_022911.3(SLC26A6):c.1631G>A (p.Arg544His)	SLC26A6 (R523H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64451	NM_022911.3(SLC26A6):c.1618G>C (p.Val540Leu)	SLC26A6 (V519L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64450	NM_022911.3(SLC26A6):c.1566G>A (p.Thr522=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64449	NM_022911.3(SLC26A6):c.1541C>T (p.Ser514Phe)	SLC26A6 (S493F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64458	NM_022911.3(SLC26A6):c.709C>A (p.Leu237Ile)	SLC26A6 (L216I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64457	NM_022911.3(SLC26A6):c.682G>C (p.Val228Leu)	SLC26A6 (V207L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64456	NM_022911.3(SLC26A6):c.365G>A (p.Gly122Asp)	SLC26A6 (G101D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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