ClinVar for Gene (Select 79625) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350301	NM_024574.4(NDNF):c.701A>G (p.Asp234Gly)	NDNF (D234G)	Single nucleotide variant (missense variant)	NDNF-related condition	GLikely benign
Select item 3298967	NM_024574.4(NDNF):c.1462A>G (p.Asn488Asp)	NDNF (N488D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298966	NM_024574.4(NDNF):c.955A>G (p.Ile319Val)	NDNF (I319V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3298965	NM_024574.4(NDNF):c.879A>G (p.Ile293Met)	NDNF (I293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298964	NM_024574.4(NDNF):c.842A>T (p.Tyr281Phe)	NDNF (Y281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255171	NM_024574.4(NDNF):c.825A>C (p.Lys275Asn)	NDNF (K275N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 25 with anosmia	GUncertain significance
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	AFG2A, ANXA5 +17 more	Deletion	not provided	GUncertain significance
Select item 3185994	NM_024574.4(NDNF):c.896T>C (p.Phe299Ser)	NDNF (F299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185980	NM_024574.4(NDNF):c.650A>T (p.Lys217Ile)	NDNF (K217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185970	NM_024574.4(NDNF):c.31C>T (p.Leu11Phe)	NDNF (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185963	NM_024574.4(NDNF):c.178A>G (p.Thr60Ala)	NDNF (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185956	NM_024574.4(NDNF):c.1693A>G (p.Arg565Gly)	NDNF (R565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185942	NM_024574.4(NDNF):c.1021A>G (p.Lys341Glu)	NDNF (K341E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655060	NM_024574.4(NDNF):c.602C>G (p.Thr201Ser)	NDNF (T201S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619412	NM_024574.4(NDNF):c.1222C>G (p.Gln408Glu)	NDNF (Q408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533352	NM_024574.4(NDNF):c.923C>T (p.Thr308Met)	NDNF (T308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526924	NM_024574.4(NDNF):c.287C>T (p.Pro96Leu)	NDNF (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473126	NM_024574.4(NDNF):c.1685T>C (p.Val562Ala)	NDNF (V562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	AFG2A, ANXA5 +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2410388	NM_024574.4(NDNF):c.773C>T (p.Pro258Leu)	NDNF (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372370	NM_024574.4(NDNF):c.592C>A (p.Pro198Thr)	NDNF (P198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369671	NM_024574.4(NDNF):c.653A>G (p.Glu218Gly)	NDNF (E218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358162	NM_024574.4(NDNF):c.1255G>A (p.Val419Ile)	NDNF (V419I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357343	NM_024574.4(NDNF):c.901G>A (p.Val301Ile)	NDNF (V301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331923	NM_024574.4(NDNF):c.770T>C (p.Phe257Ser)	NDNF (F257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321619	NM_024574.4(NDNF):c.976G>A (p.Ala326Thr)	NDNF (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302949	NM_024574.4(NDNF):c.544G>A (p.Val182Ile)	NDNF (V182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286888	NM_024574.4(NDNF):c.1237C>T (p.Pro413Ser)	NDNF (P413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802269	NM_024574.4(NDNF):c.44_45delinsCT (p.Leu15Pro)	NDNF (L15P)	Indel (missense variant)	Hypogonadotropic hypogonadism 25 with anosmia	GUncertain significance
Select item 1709811	NM_024574.4(NDNF):c.1159del (p.Ile387fs)	NDNF (I387fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 25 with anosmia	GLikely pathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1321863	NM_024574.4(NDNF):c.186G>A (p.Lys62=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1321862	NM_024574.4(NDNF):c.435A>G (p.Leu145=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1321861	NM_024574.4(NDNF):c.939T>C (p.Asp313=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1321860	NM_024574.4(NDNF):c.1035A>C (p.Leu345=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1321859	NM_024574.4(NDNF):c.1392A>G (p.Ser464=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1244379	NM_024574.4(NDNF):c.1567C>T (p.Leu523=)	NDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980135	GRCh37/hg19 4q27(chr4:121183810-122428870)x3	PRDM5, NDNF +2 more	Copy number gain	not provided	GUncertain significance
Select item 980134	GRCh37/hg19 4q27(chr4:121232369-121963144)x3	NDNF, PRDM5	Copy number gain	not provided	GUncertain significance
Select item 834071	NM_024574.4(NDNF):c.1406G>A (p.Trp469Ter)	NDNF (W469*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 25 with anosmia	GPathogenic
Select item 834070	NM_024574.4(NDNF):c.381del (p.Tyr128fs)	NDNF (Y128fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 25 with anosmia	GPathogenic
Select item 834069	NM_024574.4(NDNF):c.184A>T (p.Lys62Ter)	NDNF (K62*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 25 with anosmia	GPathogenic
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61