GIGYF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	LOC129998966, LOC129998967 +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2430005	NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)	GIGYF1	Single nucleotide variant (synonymous variant +2 more)	Autism spectrum disorder	GPathogenic
Select item 3036050	NM_001375765.1(GIGYF1):c.3097del (p.Asp1033fs)	GIGYF1 (D1033fs)	Deletion (nonsense +2 more)	GIGYF1-related condition	GUncertain significance
Select item 3099775	NM_001375765.1(GIGYF1):c.3094G>A (p.Val1032Met)	GIGYF1 (V1032M)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2462289	NM_001375765.1(GIGYF1):c.3087C>G (p.Ile1029Met)	GIGYF1 (S1060W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322916	NM_001375765.1(GIGYF1):c.3074C>T (p.Ser1025Phe)	GIGYF1 (L1031F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226224	NM_001375765.1(GIGYF1):c.3073T>G (p.Ser1025Ala)	GIGYF1 (D1055E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040354	NM_001375765.1(GIGYF1):c.3056-8G>T	GIGYF1 (R1021L +2 more)	Single nucleotide variant (missense variant +2 more)	GIGYF1-related condition	GBenign
Select item 2378412	NM_001375765.1(GIGYF1):c.2974C>T (p.His992Tyr)	GIGYF1 (H992Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099774	NM_001375765.1(GIGYF1):c.2944G>A (p.Ala982Thr)	GIGYF1 (A981T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034342	NM_001375765.1(GIGYF1):c.2925+3G>A	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related condition	GLikely benign
Select item 3099772	NM_001375765.1(GIGYF1):c.2915A>G (p.Gln972Arg)	GIGYF1 (Q972R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099771	NM_001375765.1(GIGYF1):c.2911C>T (p.Arg971Trp)	GIGYF1 (R970W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308024	NM_001375765.1(GIGYF1):c.2831G>C (p.Cys944Ser)	GIGYF1 (C944S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099770	NM_001375765.1(GIGYF1):c.2809G>A (p.Val937Ile)	GIGYF1 (V936I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1699462	NM_001375765.1(GIGYF1):c.2801C>T (p.Pro934Leu)	GIGYF1 (P933L +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3099769	NM_001375765.1(GIGYF1):c.2767A>G (p.Met923Val)	GIGYF1 (M922V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035541	NM_001375765.1(GIGYF1):c.2761+6C>T	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related condition	GLikely benign
Select item 2533149	NM_001375765.1(GIGYF1):c.2740A>G (p.Ser914Gly)	GIGYF1 (S914G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038257	NM_001375765.1(GIGYF1):c.2718C>T (p.Cys906=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 2396639	NM_001375765.1(GIGYF1):c.2701G>A (p.Gly901Ser)	GIGYF1 (G901S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099768	NM_001375765.1(GIGYF1):c.2695C>A (p.Gln899Lys)	GIGYF1 (Q899K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341948	NM_001375765.1(GIGYF1):c.2636G>A (p.Arg879His)	GIGYF1 (R878H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099767	NM_001375765.1(GIGYF1):c.2635C>T (p.Arg879Cys)	GIGYF1 (R879C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514586	NM_001375765.1(GIGYF1):c.2627G>A (p.Arg876Gln)	GIGYF1 (R876Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058456	NM_001375765.1(GIGYF1):c.2622G>C (p.Ser874=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 3037248	NM_001375765.1(GIGYF1):c.2600+7G>A	GIGYF1	Single nucleotide variant (intron variant)	GIGYF1-related condition	GBenign
Select item 3058387	NM_001375765.1(GIGYF1):c.2565C>T (p.Leu855=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 2213424	NM_001375765.1(GIGYF1):c.2545G>A (p.Gly849Arg)	GIGYF1 (G848R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046892	NM_001375765.1(GIGYF1):c.2534C>T (p.Pro845Leu)	GIGYF1 (P844L +1 more)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 2309536	NM_001375765.1(GIGYF1):c.2531C>G (p.Thr844Ser)	GIGYF1 (T844S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1685847	NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs)	GIGYF1 (G833fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 2490946	NM_001375765.1(GIGYF1):c.2476G>A (p.Gly826Ser)	GIGYF1 (G825S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099766	NM_001375765.1(GIGYF1):c.2403C>A (p.Asn801Lys)	GIGYF1 (N801K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210423	NM_001375765.1(GIGYF1):c.2398C>G (p.Pro800Ala)	GIGYF1 (P800A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333954	NM_001375765.1(GIGYF1):c.2393A>G (p.Gln798Arg)	GIGYF1 (Q798R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467742	NM_001375765.1(GIGYF1):c.2386C>T (p.Arg796Trp)	GIGYF1 (R796W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591463	NM_001375765.1(GIGYF1):c.2374C>T (p.Arg792Trp)	GIGYF1 (R792W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480906	NM_001375765.1(GIGYF1):c.2366C>G (p.Pro789Arg)	GIGYF1 (P789R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327682	NM_001375765.1(GIGYF1):c.2363A>G (p.Gln788Arg)	GIGYF1 (Q788R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468913	NM_001375765.1(GIGYF1):c.2348G>A (p.Arg783Gln)	GIGYF1 (R783Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099764	NM_001375765.1(GIGYF1):c.2276C>G (p.Pro759Arg)	GIGYF1 (P759R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331065	NM_001375765.1(GIGYF1):c.2263A>C (p.Ser755Arg)	GIGYF1 (S755R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099763	NM_001375765.1(GIGYF1):c.2194G>A (p.Val732Met)	GIGYF1 (V732M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270265	NM_001375765.1(GIGYF1):c.2185C>G (p.Arg729Gly)	GIGYF1 (R729G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099762	NM_001375765.1(GIGYF1):c.2182C>T (p.Arg728Trp)	GIGYF1 (R728W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099761	NM_001375765.1(GIGYF1):c.2155C>T (p.Arg719Trp)	GIGYF1 (R719W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291467	NM_001375765.1(GIGYF1):c.2126G>A (p.Arg709His)	GIGYF1 (R709H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352729	NM_001375765.1(GIGYF1):c.2072T>C (p.Val691Ala)	GIGYF1 (V691A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049526	NM_001375765.1(GIGYF1):c.2004C>T (p.Asn668=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GBenign
Select item 2607611	NM_001375765.1(GIGYF1):c.1993A>G (p.Ile665Val)	GIGYF1 (I665V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785227	NM_001375765.1(GIGYF1):c.1942G>A (p.Val648Ile)	GIGYF1 (V648I)	Single nucleotide variant (missense variant +1 more)	GIGYF1-related condition +1 more	GBenign/Likely benign
Select item 3099760	NM_001375765.1(GIGYF1):c.1930C>G (p.Arg644Gly)	GIGYF1 (R644G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099759	NM_001375765.1(GIGYF1):c.1903C>T (p.Arg635Trp)	GIGYF1 (R635W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400902	NM_001375765.1(GIGYF1):c.1898T>C (p.Met633Thr)	GIGYF1 (M633T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099758	NM_001375765.1(GIGYF1):c.1895C>T (p.Thr632Met)	GIGYF1 (T632M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467210	NM_001375765.1(GIGYF1):c.1892C>G (p.Pro631Arg)	GIGYF1 (P631R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566259	NM_001375765.1(GIGYF1):c.1850A>G (p.Gln617Arg)	GIGYF1 (Q617R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043876	NM_001375765.1(GIGYF1):c.1830G>T (p.Thr610=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 3051542	NM_001375765.1(GIGYF1):c.1808AGC[8] (p.Gln608_Leu609insGlnGln)	GIGYF1	Microsatellite (inframe insertion +1 more)	GIGYF1-related condition	GUncertain significance
Select item 2533930	NM_001375765.1(GIGYF1):c.1810C>T (p.Gln604Ter)	GIGYF1 (Q604*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2355881	NM_001375765.1(GIGYF1):c.1802C>T (p.Pro601Leu)	GIGYF1 (P601L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099757	NM_001375765.1(GIGYF1):c.1799C>T (p.Pro600Leu)	GIGYF1 (P600L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036902	NM_001375765.1(GIGYF1):c.1794A>G (p.Pro598=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GLikely benign
Select item 747944	NM_001375765.1(GIGYF1):c.1788G>A (p.Pro596=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition +1 more	GLikely benign
Select item 1342629	NM_001375765.1(GIGYF1):c.1787C>T (p.Pro596Leu)	GIGYF1 (P596L)	Single nucleotide variant (missense variant +1 more)	GIGYF1-associated neurodevelopmental disorder	GUncertain significance
Select item 3099756	NM_001375765.1(GIGYF1):c.1766C>T (p.Ala589Val)	GIGYF1 (A589V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408395	NM_001375765.1(GIGYF1):c.1750G>A (p.Ala584Thr)	GIGYF1 (A584T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1280351	NM_001375765.1(GIGYF1):c.1743A>G (p.Pro581=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition +1 more	GBenign
Select item 2246927	NM_001375765.1(GIGYF1):c.1693C>G (p.Gln565Glu)	GIGYF1 (Q565E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527770	NM_001375765.1(GIGYF1):c.1571del (p.Val524fs)	GIGYF1 (V524fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2315658	NM_001375765.1(GIGYF1):c.1480G>C (p.Glu494Gln)	GIGYF1 (E494Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657761	NM_001375765.1(GIGYF1):c.1473G>A (p.Thr491=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition +1 more	GLikely benign
Select item 2517403	NM_001375765.1(GIGYF1):c.1456A>G (p.Ile486Val)	GIGYF1 (I486V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530631	NM_001375765.1(GIGYF1):c.1427A>G (p.Lys476Arg)	GIGYF1 (K476R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311187	NM_001375765.1(GIGYF1):c.1412A>G (p.His471Arg)	GIGYF1 (H471R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596462	NM_001375765.1(GIGYF1):c.1349C>T (p.Thr450Met)	GIGYF1 (T450M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485086	NM_001375765.1(GIGYF1):c.1249G>C (p.Gly417Arg)	GIGYF1 (G417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541581	NM_001375765.1(GIGYF1):c.1222G>A (p.Gly408Arg)	GIGYF1 (G408R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 445298	NM_022574.5(GIGYF1):c.1192+14A>T	GIGYF1	Single nucleotide variant	not provided	GLikely benign
Select item 2377302	NM_001375765.1(GIGYF1):c.1184C>T (p.Ala395Val)	GIGYF1 (A395V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2632232	NM_001375765.1(GIGYF1):c.1171A>T (p.Lys391Ter)	GIGYF1 (K391*)	Single nucleotide variant (nonsense +1 more)	GIGYF1-related condition	GLikely pathogenic
Select item 2365213	NM_001375765.1(GIGYF1):c.1160A>C (p.Glu387Ala)	GIGYF1 (E387A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303781	NM_001375765.1(GIGYF1):c.1139G>A (p.Gly380Glu)	GIGYF1 (G380E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050670	NM_001375765.1(GIGYF1):c.1134C>T (p.Leu378=)	GIGYF1	Single nucleotide variant (synonymous variant +1 more)	GIGYF1-related condition	GBenign
Select item 3027028	NM_001375765.1(GIGYF1):c.1122_1132del (p.Pro377fs)	GIGYF1 (P377fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2219459	NM_001375765.1(GIGYF1):c.1126G>A (p.Gly376Ser)	GIGYF1 (G376S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040797	NM_001375765.1(GIGYF1):c.1087GAG[1] (p.Glu364del)	GIGYF1 (E364del)	Microsatellite (inframe deletion +1 more)	GIGYF1-related condition	GBenign
Select item 2345931	NM_001375765.1(GIGYF1):c.1082C>T (p.Pro361Leu)	GIGYF1 (P361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236251	NM_001375765.1(GIGYF1):c.1078C>T (p.Pro360Ser)	GIGYF1 (P360S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546621	NM_001375765.1(GIGYF1):c.1043G>A (p.Gly348Glu)	GIGYF1 (G348E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099788	NM_001375765.1(GIGYF1):c.907A>G (p.Met303Val)	GIGYF1 (M303V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099787	NM_001375765.1(GIGYF1):c.866A>T (p.Asp289Val)	GIGYF1 (D289V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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