ClinVar (all) for Orgtrack (Select 507598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672265	NM_015506.3:c.275_278del	MMACHC	Deletion	Cobalamin C disease	GLikely pathogenic
Select item 2672264	NM_201253.3(CRB1):c.71delA	CRB1 (N24fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2585675	NM_001010898.4(SLC6A17):c.1816-10C>T	SLC6A17	Single nucleotide variant (intron variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 2585674	NM_001010898.4(SLC6A17):c.1581G>A (p.Ser527=)	SLC6A17	Single nucleotide variant (synonymous variant)	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	GBenign
Select item 2585673	NM_005645.4(TAF13):c.-2G>A	TAF13	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 2585672	NM_012262.4(HS2ST1):c.364-19A>G	HS2ST1	Single nucleotide variant (intron variant)	Neurofacioskeletal syndrome with or without renal agenesis	GBenign
Select item 2585671	NM_002440.4(MSH4):c.1782-11_1782-10insAT	MSH4	Insertion (intron variant)	Spermatogenic failure 2 +1 more	GBenign
Select item 2585670	NM_002440.4(MSH4):c.1575A>T (p.Leu525=)	MSH4	Single nucleotide variant (synonymous variant)	Spermatogenic failure 2 +1 more	GBenign
Select item 2585669	NM_002440.4(MSH4):c.1569T>C (p.Tyr523=)	MSH4	Single nucleotide variant (synonymous variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 2585668	NM_002440.4(MSH4):c.1540+8C>A	MSH4	Single nucleotide variant (intron variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 2585667	NM_002440.4(MSH4):c.289G>A (p.Ala97Thr)	MSH4 (A97T)	Single nucleotide variant (missense variant)	Premature ovarian failure 20 +1 more	GBenign
Select item 2585666	NM_024911.7(WLS):c.432G>A (p.Ala144=)	GNG12-AS1, WLS	Single nucleotide variant (synonymous variant)	Zaki syndrome	GBenign
Select item 2585665	NM_001008216.2(GALE):c.529-11A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GConflicting classifications of pathogenicity
Select item 2585664	NM_015001.3(SPEN):c.1635+6C>T	SPEN	Single nucleotide variant (intron variant)	Radio-Tartaglia syndrome	GBenign
Select item 2585663	NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features	GBenign
Select item 2585662	NM_015215.4(CAMTA1):c.234+62447C>T	CAMTA1 (L80F)	Single nucleotide variant (missense variant +2 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GBenign
Select item 2585661	NM_015557.3(CHD5):c.429G>C (p.Leu143=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585660	NM_015557.3(CHD5):c.903C>T (p.Phe301=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585659	NM_015557.3(CHD5):c.1104A>G (p.Val368=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585658	NM_015557.3(CHD5):c.4615T>C (p.Ser1539Pro)	CHD5 (S1539P)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585657	NM_005427.4(TP73):c.985+15A>G	TP73	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
Select item 2585656	NM_005427.4(TP73):c.519C>T (p.Thr173=)	TP73	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
Select item 2585655	NM_005427.4(TP73):c.-20C>T	TP73	Single nucleotide variant (5 prime UTR variant)	Ciliary dyskinesia, primary, 47, and lissencephaly	GBenign
Select item 2585654	NM_018216.4(PANK4):c.393A>G (p.Lys131=)	PANK4	Single nucleotide variant (synonymous variant)	Cataract 49	GBenign
Select item 2585653	NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)	PANK4 (A547V)	Single nucleotide variant (missense variant)	Cataract 49	GBenign
Select item 2585652	NM_001170535.3(ATAD3A):c.527G>A (p.Arg176Gln)	ATAD3A (R224Q +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GBenign
Select item 2585651	NM_002016.2(FLG):c.995G>T (p.Gly332Val)	FLG, FLG-AS1 (G332V)	Single nucleotide variant (missense variant +1 more)	Ichthyosis vulgaris	GBenign
Select item 2585650	NM_002016.2(FLG):c.5051G>A (p.Arg1684His)	FLG, FLG-AS1 (R1684H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2585649	NM_002016.2(FLG):c.5095C>T (p.Arg1699Cys)	FLG-AS1, FLG (R1699C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2585648	NM_002016.2(FLG):c.7015G>A (p.Asp2339Asn)	FLG, FLG-AS1 (D2339N)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2585647	NM_002016.2(FLG):c.10017G>A (p.Gln3339=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris	GBenign
Select item 2585646	NM_002016.2(FLG):c.10194T>C (p.Ser3398=)	FLG-AS1, FLG	Single nucleotide variant (synonymous variant)	Ichthyosis vulgaris	GBenign
Select item 2585645	NM_002016.2(FLG):c.10307G>C (p.Gly3436Ala)	FLG, FLG-AS1 (G3436A)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2585644	NM_002016.2(FLG):c.11213G>A (p.Arg3738His)	FLG, FLG-AS1 (R3738H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 2572759	NM_022356.4(P3H1):c.2055+86A>G	P3H1 (K714R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2527545	NM_018489.3(ASH1L):c.5337C>G (p.Ile1779Met)	ASH1L (I1779M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 52 +2 more	GUncertain significance
Select item 2444170	NM_018489.3(ASH1L):c.132GGA[1] (p.Glu47del)	ASH1L (E47del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Familial hypobetalipoproteinemia 2 +1 more	GUncertain significance
Select item 2429124	NM_000110.4(DPYD):c.1905+1G>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2421552	NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)	AGL (R882fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease type III	GPathogenic
Select item 2419618	NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)	CR2 (T1010K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2418125	NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)	HMCN1 (K2308N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2415005	NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)	CRB1 (D1067N +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 2414088	NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)	HMCN1 (R4839Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2413724	NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)	HMCN1 (H5427R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2412925	NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)	CACNA1E (S1503F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2412214	NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)	DPYD, DPYD-AS1 (R692Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency +2 more	GUncertain significance
Select item 2373739	NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)	CFHR5 (I567V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2367145	NM_018489.3(ASH1L):c.4793C>T (p.Ala1598Val)	ASH1L (A1598V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2347964	NM_002016.2(FLG):c.7634G>T (p.Gly2545Val)	FLG, FLG-AS1 (G2545V)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +2 more	GUncertain significance
Select item 2261256	NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)	KCNQ4 (G162E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2259909	NM_018489.3(ASH1L):c.5291G>A (p.Ser1764Asn)	ASH1L (S1764N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2257455	NM_002016.2(FLG):c.440C>T (p.Thr147Ile)	CCDST, FLG (T147I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2231123	NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)	AP4B1, AP4B1-AS1 (N245H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2227565	NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)	ASPM (K2002R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2227167	NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)	ASPM (M1383T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2224704	NM_001365999.1(SZT2):c.7652G>A (p.Arg2551Gln)	SZT2 (R2494Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2221648	NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)	HMCN1 (T3822A)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2218921	NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)	HMCN1 (I1976T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2210590	NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)	ASPM (R1948C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2210393	NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)	ASPM (V1804I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2203153	NM_015978.3(TNNI3K):c.2309A>T (p.Glu770Val)	FPGT-TNNI3K, LRRC53 +1 more (E770V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2202962	NM_206933.4(USH2A):c.4758+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2202907	NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)	CRB1 (G454R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GConflicting classifications of pathogenicity
Select item 2202881	NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)	DARS2 (R266*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2202152	NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)	USH2A (I3532T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2201235	NM_001394062.1(MACF1):c.16925G>A (p.Gly5642Asp)	MACF1 (G3580D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2199119	NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)	CACNA1S (S243L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 2198754	NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)	USH2A (S29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2198654	NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)	USH2A (R4040C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2197977	NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)	ADAR (V1101I +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +2 more	GUncertain significance
Select item 2197801	NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)	SLC2A1 (P362S)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 2197143	NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)	AGL (I1058S +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2196910	NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser)	SZT2 (T1536S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2196201	NM_000642.3(AGL):c.1912T>C (p.Tyr638His)	AGL (Y622H +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2195989	NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)	MMACHC (T47N)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GUncertain significance
Select item 2194206	NM_000396.4(CTSK):c.633G>A (p.Met211Ile)	CTSK (M211I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2193821	NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg)	ADAMTSL4 (G717R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 2192878	NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)	HMCN1 (A1646T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2190933	NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)	ASPM (A881V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2190657	NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)	HMCN1 (C5270R)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2188606	NM_018136.5(ASPM):c.639A>G (p.Ile213Met)	ASPM (I213M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2188165	NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)	LOC129930446, MMACHC (V152E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2186856	NM_001365999.1(SZT2):c.475A>T (p.Ile159Phe)	SZT2 (I159F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2186654	NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)	CACNA1E (I1130V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GUncertain significance
Select item 2186377	NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)	HMCN1 (C5298Y)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2186228	NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)	USH2A, USH2A-AS2 (R1885G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2185305	NM_002529.4(NTRK1):c.961G>A (p.Val321Met)	NTRK1 (V291M +1 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GUncertain significance
Select item 2185242	NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)	HMCN1 (S481T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2185038	NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)	HMCN1 (A5629G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2184693	NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)	HMGCL (Y167C +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2183787	NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)	GORAB (P62R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2182227	NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)	ASPM (I365M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2182226	NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)	SLC2A1 (T448A)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 2181144	NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)	CACNA1E (R425P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 69 +2 more	GLikely benign
Select item 2180971	NM_015978.3(TNNI3K):c.1389T>G (p.Ile463Met)	FPGT-TNNI3K, TNNI3K (I463M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2180787	NM_015627.3(LDLRAP1):c.360A>G (p.Thr120=)	LDLRAP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2180478	NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)	ASPM (A1386V)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GUncertain significance
Select item 2180477	NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)	ASPM (V3084I +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +2 more	GUncertain significance
Select item 2180304	NM_019032.6(ADAMTSL4):c.1040A>G (p.His347Arg)	ADAMTSL4, ADAMTSL4-AS2 (H347R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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