AGGF1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 3257612	NM_018046.5(AGGF1):c.84G>A (p.Lys28=)	AGGF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713128	NM_018046.5(AGGF1):c.112_132dup (p.Arg44_Glu45insSerCysLysArgGlnValArg)	AGGF1	Duplication (inframe_insertion)	Non-syndromic syndactyly	GLikely pathogenic
Select item 3275906	NM_018046.5(AGGF1):c.209A>G (p.Gln70Arg)	AGGF1 (Q70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409273	NM_018046.5(AGGF1):c.256A>G (p.Asn86Asp)	AGGF1 (N86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776048	NM_018046.5(AGGF1):c.313+6T>C	AGGF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2457905	NM_018046.5(AGGF1):c.329C>T (p.Thr110Met)	AGGF1 (T110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785128	NM_018046.5(AGGF1):c.335A>G (p.Tyr112Cys)	AGGF1 (Y112C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3095587	NM_018046.5(AGGF1):c.343G>A (p.Val115Ile)	AGGF1 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770164	NM_018046.5(AGGF1):c.367G>A (p.Glu123Lys)	AGGF1 (E123K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402345	NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys)	AGGF1 (E133K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2473128	NM_018046.5(AGGF1):c.418A>G (p.Lys140Glu)	AGGF1 (K140E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095593	NM_018046.5(AGGF1):c.482A>G (p.Tyr161Cys)	AGGF1 (Y161C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512589	NM_018046.5(AGGF1):c.509A>G (p.Asn170Ser)	AGGF1 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275888	NM_018046.5(AGGF1):c.512C>T (p.Ser171Leu)	AGGF1 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607503	NM_018046.5(AGGF1):c.554T>C (p.Leu185Ser)	AGGF1 (L185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095603	NM_018046.5(AGGF1):c.745C>T (p.Arg249Cys)	AGGF1 (R249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275937	NM_018046.5(AGGF1):c.785C>T (p.Pro262Leu)	AGGF1 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095608	NM_018046.5(AGGF1):c.813T>A (p.Asp271Glu)	AGGF1 (D271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525083	NM_018046.5(AGGF1):c.848C>T (p.Ser283Phe)	AGGF1 (S283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405150	NM_018046.5(AGGF1):c.878A>G (p.Asn293Ser)	AGGF1 (N293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095615	NM_018046.5(AGGF1):c.901A>G (p.Ser301Gly)	AGGF1 (S301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318650	NM_018046.5(AGGF1):c.985A>G (p.Ser329Gly)	AGGF1 (S329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275947	NM_018046.5(AGGF1):c.1027G>C (p.Glu343Gln)	AGGF1 (E343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226911	NM_018046.5(AGGF1):c.1048A>G (p.Ile350Val)	AGGF1 (I350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275927	NM_018046.5(AGGF1):c.1090A>C (p.Thr364Pro)	AGGF1 (T364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777169	NM_018046.5(AGGF1):c.1146T>C (p.Tyr382=)	AGGF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2312145	NM_018046.5(AGGF1):c.1156A>G (p.Ile386Val)	AGGF1 (I386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252604	NM_018046.5(AGGF1):c.1202A>G (p.Asp401Gly)	AGGF1 (D401G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624089	NM_018046.5(AGGF1):c.1309G>C (p.Gly437Arg)	AGGF1 (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464594	NM_018046.5(AGGF1):c.1389C>G (p.Asp463Glu)	AGGF1 (D463E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655547	NM_018046.5(AGGF1):c.1470G>A (p.Pro490=)	AGGF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458138	NM_018046.5(AGGF1):c.1492G>A (p.Val498Ile)	AGGF1 (V498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095546	NM_018046.5(AGGF1):c.1525G>A (p.Glu509Lys)	AGGF1 (E509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275917	NM_018046.5(AGGF1):c.1553C>T (p.Pro518Leu)	AGGF1 (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223273	NM_018046.5(AGGF1):c.1694T>C (p.Ile565Thr)	AGGF1 (I565T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559513	NM_018046.5(AGGF1):c.1720A>G (p.Thr574Ala)	AGGF1 (T574A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773192	NM_018046.5(AGGF1):c.1744T>G (p.Leu582Val)	AGGF1 (L582V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2494145	NM_018046.5(AGGF1):c.1781G>A (p.Arg594His)	AGGF1 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379987	NM_018046.5(AGGF1):c.1800T>A (p.Ser600Arg)	AGGF1 (S600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779422	NM_018046.5(AGGF1):c.1845-4A>G	AGGF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3275898	NM_018046.5(AGGF1):c.1856A>G (p.Asp619Gly)	AGGF1 (D619G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610373	NM_018046.5(AGGF1):c.1868G>A (p.Gly623Asp)	AGGF1 (G623D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475478	NM_018046.5(AGGF1):c.1909G>T (p.Gly637Cys)	AGGF1 (G637C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512307	NM_018046.5(AGGF1):c.1940C>T (p.Thr647Met)	AGGF1 (T647M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402595	NM_018046.5(AGGF1):c.1958T>G (p.Leu653Arg)	AGGF1 (L653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095569	NM_018046.5(AGGF1):c.1976G>A (p.Gly659Asp)	AGGF1 (G659D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095572	NM_018046.5(AGGF1):c.2053G>A (p.Ala685Thr)	AGGF1 (A685T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464813	NM_018046.5(AGGF1):c.2086A>G (p.Thr696Ala)	AGGF1 (T696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095577	NM_018046.5(AGGF1):c.2110G>A (p.Gly704Arg)	AGGF1 (G704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768007	NM_018046.5(AGGF1):c.2116A>T (p.Met706Leu)	AGGF1 (M706L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 1808746	GRCh37/hg19 5q13.3(chr5:76239549-76720244)x3	AGGF1, CRHBP +2 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563080	GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3	AGGF1, CRHBP +3 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 60