Related gene-specific medical variations for Gene (Select 60558) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1403484	NM_021927.3(GUF1):c.82C>A (p.Pro28Thr)	GUF1, LOC129992541 (P28T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 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 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

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Links from Gene

Items: 39