diplochita macrotia - ClinVar

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Items: 98

The following term was not found in ClinVar: diplochita.
Showing results for Diplochita macrotis. Your search for Diplochita macrotis retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986264	NM_002074.5(GNB1):c.640C>T (p.Arg214Ter)	GNB1 (R114* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 560255	NM_002744.6(PRKCZ):c.778C>T (p.Arg260Cys)	PRKCZ (R260C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522858	NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	RERE (H1435R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic/Likely pathogenic
Select item 99035	NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	ABCA4 (R408*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +4 more	GPathogenic
Select item 985246	NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser)	COL11A1 (G1289S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 520626	NM_003193.5(TBCE):c.101G>C (p.Gly34Ala)	TBCE (G34A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 426849	NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr)	LRPPRC (R994T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426850	NM_133259.4(LRPPRC):c.592_603del	LRPPRC	Deletion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 655652	NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg)	EFEMP1 (C55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986070	NM_004544.4(NDUFA10):c.389G>A (p.Arg130His)	NDUFA10 (R130H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986071	NM_004544.4(NDUFA10):c.233_235del (p.Ala78del)	NDUFA10 (A78del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 154414	GRCh38/hg38 2q37.3(chr2:241914448-242126251)x1	LINC01237, LINC01238 +6 more	Copy number loss	See cases	GBenign
Select item 208674	NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)	CTNNB1 (G575R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 7632	NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	GHSR (A204E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 150083	GRCh38/hg38 3q29(chr3:197990588-198110198)x3	LMLN, LMLN-AS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 985206	NM_001148.6(ANK2):c.10360del (p.Arg3454fs)	ANK2 (R2254fs +4 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 986247	NM_057175.5(NAA15):c.739T>G (p.Tyr247Asp)	NAA15 (Y247D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57964	GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3	CPLANE1, CPLANE1-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 829802	NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)	LOC121740638, TFAP2A +1 more (G253E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 522845	NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)	SYNGAP1, SYNGAP1-AS1 (R544*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 520888	NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs)	SYNGAP1, SYNGAP1-AS1 (F918fs +1 more)	Microsatellite (frameshift variant)	Developmental disorder +2 more	GPathogenic
Select item 638583	NM_017934.7(PHIP):c.3656+1242A>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 985773	NM_017934.7(PHIP):c.923+1G>A	PHIP	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 985787	NM_006734.4(HIVEP2):c.131G>C (p.Gly44Ala)	HIVEP2 (G44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870652	Single allele	IRAK1BP1, PHIP	Deletion	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 985087	NM_182931.3(KMT2E):c.5155C>A (p.Pro1719Thr)	KMT2E (P1719T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338810	NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	SHH (G29A)	Single nucleotide variant (missense variant)	Anemia +9 more	GUncertain significance
Select item 523287	GRCh37/hg19 7q36.3(chr7:156656444-156866708)	LMBR1, MNX1 +1 more	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 523286	GRCh37/hg19 7q36.3(chr7:156333296-156556779)	LMBR1, RNF32	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 985851	NM_006265.3(RAD21):c.235A>G (p.Asn79Asp)	RAD21 (N79D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522798	NM_031263.4(HNRNPK):c.214-35A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome	GLikely pathogenic
Select item 191238	NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	STXBP1 (R292C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 521298	NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)	GRIN1 (R548Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 443525	NCBI36/hg18 10q11.21-11.23(chr10:45502266-51581091)x3		Copy number gain	See cases	GUncertain significance
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 5020	NM_021926.4(ALX4):c.793C>T (p.Arg265Ter)	ALX4 (R265*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 982301	NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)	MARK2 (R269* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 268209	NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)	GRIN2B (R682H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic/Likely pathogenic
Select item 521654	NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs)	KMT2D (L4665fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 522824	NM_001330288.2(SMARCC2):c.1926+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	SMARCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Hypotonia +9 more	GPathogenic/Likely pathogenic
Select item 40558	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +8 more	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +51 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 521072	NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg)	COL4A1 (G1023R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 978038	NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)	COL4A1 (G817E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 443642	GRCh37/hg19 13q21.2-21.31(chr13:61660181-63785757)x3	PCDH20	Copy number gain	See cases	Gconflicting data from submitters
Select item 145368	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	GABRG3-AS1, GOLGA6L1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149421	GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 973031	NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)	MAGEL2 (P534fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 155986	NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg)	SNHG14, UBE3A (G545R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 520876	NM_004667.6(HERC2):c.8312A>T (p.His2771Leu)	HERC2 (H2771L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520875	NM_004667.6(HERC2):c.3629T>C (p.Ile1210Thr)	HERC2 (I1210T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520874	NM_004667.6(HERC2):c.2549C>T (p.Pro850Leu)	HERC2 (P850L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 154741	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1	ARHGAP11B, CHRNA7 +24 more	Copy number loss	See cases	GPathogenic
Select item 149194	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	ARHGAP11A, ARHGAP11A-DT +33 more	Copy number loss	See cases	GPathogenic
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Poor speech +10 more	GPathogenic
Select item 208710	NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	PKD1 (R2516C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 30908	NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	SRCAP (R2444*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +5 more	GPathogenic
Select item 986142	NM_013275.6(ANKRD11):c.7873C>T (p.Gln2625Ter)	ANKRD11 (Q2625*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 985906	NM_013275.6(ANKRD11):c.3244C>T (p.Gln1082Ter)	ANKRD11 (Q1082*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 560130	Single allele	GRIN2A	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1684498	NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)	MYH10 (R749* +3 more)	Single nucleotide variant (nonsense)	Obesity +4 more	GUncertain significance
Select item 522823	NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	NAGLU (S612G)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +2 more	GPathogenic
Select item 522822	NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	NAGLU (E639*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-B +1 more	GPathogenic/Likely pathogenic
Select item 60205	GRCh38/hg38 18p11.32(chr18:829995-1782083)x3	ADCYAP1, LINC00470 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1285606	NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu)	DOHH (P223L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	GUncertain significance
Select item 521708	NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter)	ODAD3 (Q354* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 59032	GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3	LOC102723451, LOC102723475 +2 more	Copy number gain	See cases	GUncertain significance
Select item 985682	NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer)	SON	Deletion (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 985247	NM_138927.4(SON):c.2650C>T (p.Gln884Ter)	SON (Q884*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 986263	NM_001389.5(DSCAM):c.3276del (p.Glu1093fs)	DSCAM (E1093fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 985497	NM_001429.4(EP300):c.2213A>G (p.Gln738Arg)	EP300 (Q712R +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder +1 more	GUncertain significance
Select item 521140	NM_001429.4(EP300):c.4026-2A>G	EP300	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 985040	NM_001429.4(EP300):c.6986dup (p.Arg2330fs)	EP300 (R2304fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 489299	NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	CDKL5 (R948*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 225894	NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)	DDX3X (G177* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 521573	NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	DDX3X (R326C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 522795	NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	DDX3X (R534C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic/Likely pathogenic
Select item 521079	NM_001367721.1(CASK):c.845dup (p.Tyr282Ter)	CASK (Y282*)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 521401	NM_203475.3(PORCN):c.49T>C (p.Cys17Arg)	PORCN (C17R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 280098	NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	LOC126863256, WDR45 (R7*)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5 +4 more	GPathogenic
Select item 521610	NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)	ATRX (P2478A +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GConflicting classifications of pathogenicity
Select item 986103	NM_000194.3(HPRT1):c.178C>T (p.His60Tyr)	HPRT1 (H60Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 560256	NM_000194.3(HPRT1):c.536T>C (p.Val179Ala)	HPRT1 (V179A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986246	NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn)	AFF2 (S572N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 58009	GRCh38/hg38 Xq28(chrX:153667032-153817949)x0	ABCD1, BCAP31 +16 more	Copy number loss	See cases	GPathogenic
Select item 432023	NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr)	L1CAM (M235T +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome +1 more	GConflicting classifications of pathogenicity
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GPathogenic
Select item 442234	GRCh37/hg19 Xp22.2(chrX:10469305-10700156)x3	MID1	Copy number gain	See cases	GUncertain significance
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Thin upper lip vermilion +22 more	GPathogenic
Select item 268019	46;XY;t(1;4)(q32;q11)		Translocation	Narrow nasal base +9 more	GUncertain significance
Select item 267831	46;Y;inv(X)(q27q28)		Inversion	Obesity +14 more	GUncertain significance
Select item 267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn		Complex	Hydrocele testis +10 more	GPathogenic
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Epicanthus +15 more	GLikely pathogenic

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Items: 98