FNDC7[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 2378592	NM_001144937.3(FNDC7):c.19A>T (p.Thr7Ser)	FNDC7 (T7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096100	NM_001144937.3(FNDC7):c.122T>C (p.Leu41Pro)	FNDC7 (L41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305893	NM_001144937.3(FNDC7):c.158C>G (p.Pro53Arg)	FNDC7 (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592558	NM_001144937.3(FNDC7):c.242C>T (p.Thr81Met)	FNDC7 (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363978	NM_001144937.3(FNDC7):c.291C>A (p.Ser97Arg)	FNDC7 (S97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225146	NM_001144937.3(FNDC7):c.292G>A (p.Ala98Thr)	FNDC7 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396812	NM_001144937.3(FNDC7):c.401A>G (p.Glu134Gly)	FNDC7 (E134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638964	NM_001144937.3(FNDC7):c.429C>T (p.Ser143=)	FNDC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612629	NM_001144937.3(FNDC7):c.599G>A (p.Ser200Asn)	FNDC7 (S200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096112	NM_001144937.3(FNDC7):c.604C>T (p.Arg202Trp)	FNDC7 (R202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096113	NM_001144937.3(FNDC7):c.617A>T (p.Asn206Ile)	FNDC7 (N206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411600	NM_001144937.3(FNDC7):c.685T>C (p.Phe229Leu)	FNDC7, LOC129931079 (F229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351682	NM_001144937.3(FNDC7):c.802G>A (p.Ala268Thr)	FNDC7, LOC129931080 (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710425	NM_001144937.3(FNDC7):c.913G>C (p.Val305Leu)	FNDC7 (V305L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313232	NM_001144937.3(FNDC7):c.1003A>C (p.Thr335Pro)	FNDC7 (T335P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096096	NM_001144937.3(FNDC7):c.1016T>A (p.Phe339Tyr)	FNDC7 (F339Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096097	NM_001144937.3(FNDC7):c.1030G>A (p.Gly344Ser)	FNDC7 (G344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532644	NM_001144937.3(FNDC7):c.1088G>T (p.Gly363Val)	FNDC7 (G363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096098	NM_001144937.3(FNDC7):c.1175G>T (p.Trp392Leu)	FNDC7 (W392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373256	NM_001144937.3(FNDC7):c.1265C>A (p.Thr422Asn)	FNDC7 (T422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255950	NM_001144937.3(FNDC7):c.1271C>T (p.Ser424Leu)	FNDC7 (S424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096101	NM_001144937.3(FNDC7):c.1426G>A (p.Val476Met)	FNDC7 (V476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322588	NM_001144937.3(FNDC7):c.1436G>A (p.Arg479Gln)	FNDC7 (R479Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096102	NM_001144937.3(FNDC7):c.1477G>A (p.Gly493Arg)	FNDC7 (G493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096103	NM_001144937.3(FNDC7):c.1573G>A (p.Glu525Lys)	FNDC7 (E525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204580	NM_001144937.3(FNDC7):c.1588C>T (p.Arg530Trp)	FNDC7 (R530W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096104	NM_001144937.3(FNDC7):c.1589G>A (p.Arg530Gln)	FNDC7 (R530Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096105	NM_001144937.3(FNDC7):c.1613C>T (p.Pro538Leu)	FNDC7 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096106	NM_001144937.3(FNDC7):c.1681G>A (p.Val561Met)	FNDC7 (V561M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535111	NM_001144937.3(FNDC7):c.1738A>G (p.Thr580Ala)	FNDC7 (T580A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284773	NM_001144937.3(FNDC7):c.1760C>T (p.Thr587Ile)	FNDC7 (T587I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096107	NM_001144937.3(FNDC7):c.1813G>A (p.Val605Met)	FNDC7 (V605M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638965	NM_001144937.3(FNDC7):c.1818A>G (p.Thr606=)	FNDC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600744	NM_001144937.3(FNDC7):c.1832G>A (p.Ser611Asn)	FNDC7 (S611N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253364	NM_001144937.3(FNDC7):c.1892C>T (p.Pro631Leu)	FNDC7 (P631L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313618	NM_001144937.3(FNDC7):c.1933C>T (p.Arg645Trp)	FNDC7 (R645W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592731	NM_001144937.3(FNDC7):c.1958G>T (p.Gly653Val)	FNDC7 (G653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096108	NM_001144937.3(FNDC7):c.1990T>C (p.Ser664Pro)	FNDC7 (S664P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532142	NM_001144937.3(FNDC7):c.1997G>C (p.Gly666Ala)	FNDC7 (G666A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605596	NM_001144937.3(FNDC7):c.2006C>T (p.Thr669Met)	FNDC7 (T669M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096109	NM_001144937.3(FNDC7):c.2053C>A (p.Pro685Thr)	FNDC7 (P685T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209985	NM_001144937.3(FNDC7):c.2106G>T (p.Leu702Phe)	FNDC7 (L702F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392630	NM_001144937.3(FNDC7):c.2123C>T (p.Pro708Leu)	FNDC7 (P708L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096110	NM_001144937.3(FNDC7):c.2162T>G (p.Leu721Arg)	FNDC7 (L721R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685814	GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	AKNAD1, EEIG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 64