60558[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 1879604	NM_021927.3(GUF1):c.-41G>C	GUF1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1398092	NM_021927.3(GUF1):c.9_12del (p.Leu4fs)	GUF1, LOC129992541 (L4fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2900996	NM_021927.3(GUF1):c.10C>G (p.Leu4Val)	GUF1, LOC129992541 (L4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1351191	NM_021927.3(GUF1):c.19C>T (p.Arg7Trp)	GUF1, LOC129992541 (R7W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1468141	NM_021927.3(GUF1):c.20G>T (p.Arg7Leu)	GUF1, LOC129992541 (R7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2806596	NM_021927.3(GUF1):c.30G>T (p.Gly10=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1362212	NM_021927.3(GUF1):c.40G>C (p.Ala14Pro)	GUF1, LOC129992541 (A14P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1926191	NM_021927.3(GUF1):c.44_45del (p.Leu15fs)	GUF1, LOC129992541 (L15fs)	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1383660	NM_021927.3(GUF1):c.41C>G (p.Ala14Gly)	GUF1, LOC129992541 (A14G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1506151	NM_021927.3(GUF1):c.42_43delinsCT (p.Leu15Phe)	GUF1, LOC129992541 (L15F)	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1494007	NM_021927.3(GUF1):c.46G>A (p.Ala16Thr)	GUF1, LOC129992541 (A16T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2022723	NM_021927.3(GUF1):c.51A>T (p.Pro17=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1513706	NM_021927.3(GUF1):c.55G>T (p.Ala19Ser)	GUF1, LOC129992541 (A19S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1421875	NM_021927.3(GUF1):c.55G>A (p.Ala19Thr)	GUF1, LOC129992541 (A19T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 744814	NM_021927.3(GUF1):c.57C>T (p.Ala19=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1350268	NM_021927.3(GUF1):c.58A>G (p.Thr20Ala)	GUF1, LOC129992541 (T20A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1652988	NM_021927.3(GUF1):c.60T>C (p.Thr20=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2809935	NM_021927.3(GUF1):c.66del (p.Ala23fs)	GUF1, LOC129992541 (A23fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2970735	NM_021927.3(GUF1):c.66C>G (p.Ala22=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2415758	NM_021927.3(GUF1):c.67G>C (p.Ala23Pro)	GUF1, LOC129992541 (A23P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1930973	NM_021927.3(GUF1):c.67G>A (p.Ala23Thr)	GUF1, LOC129992541 (A23T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2181296	NM_021927.3(GUF1):c.70C>T (p.Leu24Phe)	GUF1, LOC129992541 (L24F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1635070	NM_021927.3(GUF1):c.78G>C (p.Val26=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1390875	NM_021927.3(GUF1):c.78G>A (p.Val26=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2709983	NM_021927.3(GUF1):c.81C>T (p.Ala27=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1403484	NM_021927.3(GUF1):c.82C>A (p.Pro28Thr)	GUF1, LOC129992541 (P28T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 787533	NM_021927.3(GUF1):c.88C>T (p.Pro30Ser)	GUF1, LOC129992541 (P30S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2727594	NM_021927.3(GUF1):c.89C>T (p.Pro30Leu)	GUF1, LOC129992541 (P30L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1907329	NM_021927.3(GUF1):c.91C>T (p.Arg31Trp)	GUF1, LOC129992541 (R31W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1551379	NM_021927.3(GUF1):c.93G>C (p.Arg31=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1447155	NM_021927.3(GUF1):c.97G>A (p.Ala33Thr)	GUF1, LOC129992541 (A33T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2131684	NM_021927.3(GUF1):c.98C>A (p.Ala33Glu)	GUF1, LOC129992541 (A33E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1660254	NM_021927.3(GUF1):c.99G>T (p.Ala33=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2241267	NM_021927.3(GUF1):c.100C>A (p.Pro34Thr)	GUF1, LOC129992541 (P34T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2796108	NM_021927.3(GUF1):c.113C>A (p.Ala38Asp)	GUF1, LOC129992541 (A38D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2845946	NM_021927.3(GUF1):c.114T>G (p.Ala38=)	GUF1, LOC129992541	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2608737	NM_021927.3(GUF1):c.115G>A (p.Ala39Thr)	GUF1, LOC129992541 (A39T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103327	NM_021927.3(GUF1):c.118C>T (p.Pro40Ser)	GUF1, LOC129992541 (P40S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1895791	NM_021927.3(GUF1):c.118C>G (p.Pro40Ala)	GUF1, LOC129992541 (P40A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1483485	NM_021927.3(GUF1):c.130dup (p.Ala44fs)	GUF1, LOC129992541 (A44fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2338692	NM_021927.3(GUF1):c.141G>C (p.Arg47Ser)	GUF1 (R47S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2115820	NM_021927.3(GUF1):c.150C>A (p.Ser50Arg)	GUF1 (S50R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2498953	NM_021927.3(GUF1):c.162C>A (p.Phe54Leu)	GUF1 (F54L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2091043	NM_021927.3(GUF1):c.165G>C (p.Lys55Asn)	GUF1 (K55N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2031303	NM_021927.3(GUF1):c.165+12dup	GUF1	Duplication (intron variant)	not provided	GBenign
Select item 1597305	NM_021927.3(GUF1):c.165+9C>T	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696450	NM_021927.3(GUF1):c.165+10C>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542132	NM_021927.3(GUF1):c.165+13T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870962	NM_021927.3(GUF1):c.166-7T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909540	NM_021927.3(GUF1):c.166-2A>C	GUF1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1285313	NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)	GUF1 (L58P)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 2866176	NM_021927.3(GUF1):c.177C>G (p.Asp59Glu)	GUF1 (D59E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1639446	NM_021927.3(GUF1):c.177C>T (p.Asp59=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2759291	NM_021927.3(GUF1):c.184A>C (p.Arg62=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2113078	NM_021927.3(GUF1):c.215G>A (p.Ser72Asn)	GUF1 (S72N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1663720	NM_021927.3(GUF1):c.228C>T (p.His76=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1938613	NM_021927.3(GUF1):c.229G>C (p.Val77Leu)	GUF1 (V77L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1440097	NM_021927.3(GUF1):c.229G>A (p.Val77Met)	GUF1 (V77M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1644236	NM_021927.3(GUF1):c.237T>C (p.His79=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1426982	NM_021927.3(GUF1):c.251T>C (p.Leu84Ser)	GUF1 (L84S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3003361	NM_021927.3(GUF1):c.264C>T (p.Leu88=)	GUF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2114102	NM_021927.3(GUF1):c.275C>A (p.Thr92Lys)	GUF1 (T92K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1985954	NM_021927.3(GUF1):c.275C>T (p.Thr92Ile)	GUF1 (T92I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1405062	NM_021927.3(GUF1):c.277+1G>A	GUF1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1909853	NM_021927.3(GUF1):c.277+13T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636000	NM_021927.3(GUF1):c.278-20A>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710926	NM_021927.3(GUF1):c.283A>G (p.Ile95Val)	GUF1 (I95V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2559083	NM_021927.3(GUF1):c.286G>T (p.Asp96Tyr)	GUF1 (D96Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2810978	NM_021927.3(GUF1):c.294A>G (p.Thr98=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2998731	NM_021927.3(GUF1):c.334C>T (p.Arg112Ter)	GUF1 (R112*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1492010	NM_021927.3(GUF1):c.335G>A (p.Arg112Gln)	GUF1 (R112Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3103333	NM_021927.3(GUF1):c.342A>T (p.Arg114Ser)	GUF1 (R114S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1477750	NM_021927.3(GUF1):c.361C>T (p.Gln121Ter)	GUF1 (Q121*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2867333	NM_021927.3(GUF1):c.367G>A (p.Ala123Thr)	GUF1 (A123T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2123018	NM_021927.3(GUF1):c.372T>C (p.Ser124=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1937061	NM_021927.3(GUF1):c.376T>G (p.Phe126Val)	GUF1 (F126V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1910689	NM_021927.3(GUF1):c.386G>A (p.Cys129Tyr)	GUF1 (C129Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1395474	NM_021927.3(GUF1):c.386G>C (p.Cys129Ser)	GUF1 (C129S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1377607	NM_021927.3(GUF1):c.398A>G (p.Gln133Arg)	GUF1 (Q133R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1537305	NM_021927.3(GUF1):c.399G>A (p.Gln133=)	GUF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1360639	NM_021927.3(GUF1):c.411T>A (p.Asn137Lys)	GUF1 (N137K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2996314	NM_021927.3(GUF1):c.416T>C (p.Ile139Thr)	GUF1 (I139T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2987717	NM_021927.3(GUF1):c.422C>A (p.Thr141Lys)	GUF1 (T141K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3021498	NM_021927.3(GUF1):c.425C>T (p.Pro142Leu)	GUF1 (P142L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1593364	NM_021927.3(GUF1):c.426+10A>G	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641616	NM_021927.3(GUF1):c.427-16T>C	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784038	NM_021927.3(GUF1):c.443G>T (p.Ser148Ile)	GUF1 (S148I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2787119	NM_021927.3(GUF1):c.478G>C (p.Gly160Arg)	GUF1 (G160R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1401393	NM_021927.3(GUF1):c.479G>A (p.Gly160Asp)	GUF1 (G160D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1978367	NM_021927.3(GUF1):c.488T>G (p.Leu163Arg)	GUF1 (L163R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1488438	NM_021927.3(GUF1):c.494T>C (p.Val165Ala)	GUF1 (V165A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1516134	NM_021927.3(GUF1):c.500C>G (p.Ala167Gly)	GUF1 (A167G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1541658	NM_021927.3(GUF1):c.507+19G>A	GUF1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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