"See cases"[Disease/phenotype] AND "Institute of Human Genetics, Unive - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521576	NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)	AGO1 (F180del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	Disorders of Intracellular Cobalamin Metabolism +6 more	GPathogenic
Select item 373048	NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	POGZ (M332fs +4 more)	Deletion (frameshift variant)	See cases +5 more	GPathogenic
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 976126	NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys)	SCN2A (R538C)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 982739	NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)	COL4A4 (R1377Q)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2580304	GRCh37/hg19 2p25.3(chr2:1560632-1855525)x3	MYT1L, PXDN	Copy number gain	See cases	GUncertain significance
Select item 598952	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	QARS1 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	Insomnia +14 more	GConflicting classifications of pathogenicity
Select item 988095	NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)	BAP1 (C91R)	Single nucleotide variant (missense variant)	BAP1-associated neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 1273	NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	DOK7 (A234fs +2 more)	Duplication (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 3 +8 more	GPathogenic
Select item 56303	NM_001080522.2(CC2D2A):c.3289delG	CC2D2A	Deletion (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 2446023	NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)	GRID2 (T554A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 18 +1 more	GPathogenic/Likely pathogenic
Select item 982871	NM_176824.3(BBS7):c.497C>T (p.Ala166Val)	BBS7 (A166V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 161412	NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	NDST1 (G611S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 984711	NM_001080.3(ALDH5A1):c.1402+1G>T	ALDH5A1	Single nucleotide variant (splice donor variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 406891	NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	PKHD1 (I222V)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	See cases +7 more	GPathogenic
Select item 638172	NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)	KMT2E (S1185*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome +1 more	GLikely pathogenic
Select item 7105	NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	CFTR, CFTR-AS1	Deletion (inframe_deletion)	Cystic fibrosis	GPathogenic
Select item 35838	NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	CFTR (Q685fs)	Duplication (frameshift variant)	Cystic fibrosis	GPathogenic
Select item 67509	NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	KCNH2 (R176W +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 802447	NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	GPAA1 (R493fs)	Deletion (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 31688	NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	EXOSC3 (D132A)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 207415	NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	STXBP1 (P139L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +5 more	GPathogenic/Likely pathogenic
Select item 207440	NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	STXBP1 (R551C +3 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic
Select item 207380	NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	SPTAN1	Microsatellite (inframe_deletion)	Focal epilepsy +4 more	GPathogenic/Likely pathogenic
Select item 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	GADD45G, NXNL2 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1I +8 more	GPathogenic/Likely pathogenic
Select item 164113	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3 (R495Q)	Single nucleotide variant (missense variant)	MYBPC3-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 374243	NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	GRIN2B (V558I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +3 more	GPathogenic/Likely pathogenic
Select item 1691862	NM_003622.4(PPFIBP1):c.2158+2T>C	PPFIBP1	Single nucleotide variant (splice donor variant)	See cases	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +7 more	GConflicting classifications of pathogenicity
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GPathogenic/Likely pathogenic
Select item 13349	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11 (T2I)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Rare genetic deafness +14 more	GConflicting classifications of pathogenicity
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 42953	NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	MYH7 (D1096Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 555965	NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	GALC (L650P +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 495141	NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	PACS2 (E209K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +5 more	GPathogenic/Likely pathogenic
Select item 190122	NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	MAGEL2 (Q666fs)	Duplication (frameshift variant)	Schaaf-Yang syndrome +5 more	GPathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic
Select item 1703013	NM_032892.5(FRMD5):c.1045A>C (p.Ser349Arg)	FRMD5 (S115R +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with eye movement abnormalities and ataxia +1 more	GConflicting classifications of pathogenicity
Select item 976779	NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	AFG2B (G176V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +5 more	GPathogenic/Likely pathogenic
Select item 1210149	NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	AFG2B (G689V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hearing loss and spasticity +3 more	GConflicting classifications of pathogenicity
Select item 2580311	GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2542	NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	MEFV	Single nucleotide variant (missense variant +1 more)	MEFV-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 265346	NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)	CREBBP (R1868W +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic
Select item 464051	NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	GRIN2A (G760S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5303	NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	TNFRSF13B (A181E)	Single nucleotide variant (missense variant)	Common variable immunodeficiency +5 more	GConflicting classifications of pathogenicity
Select item 620475	NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)	EFTUD2 (R354* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 983068	NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	NARS1 (D356A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +4 more	GConflicting classifications of pathogenicity
Select item 447794	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3 (R558C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 224790	NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	CSNK2A1 (K198R +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 931423	NM_001282531.3(ADNP):c.64dup (p.Ile22fs)	ADNP (I22fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GPathogenic/Likely pathogenic
Select item 205867	NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	KCNQ2 (R198Q)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	Failure to thrive +5 more	GPathogenic/Likely pathogenic
Select item 289969	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1 (R362*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 590901	NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)	DEPDC5 (R760* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 253313	NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	EP300	Deletion (inframe_indel)	EP300-related disorder +4 more	GBenign/Likely benign
Select item 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +5 more	GPathogenic
Select item 11529	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	ARSL (W581* +3 more)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more	GPathogenic/Likely pathogenic
Select item 981251	NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile)	DDX3X (V327I +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +2 more	GUncertain significance
Select item 41911	NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)	WDR45 (Y335fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +2 more	GPathogenic
Select item 208664	NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)	NAA10 (R83C +1 more)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 143406	NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11819	NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	MECP2 (R294* +3 more)	Single nucleotide variant (nonsense)	Rett syndrome	GPathogenic FDA Recognized database
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic

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Items: 85