Related gene-specific medical variations for Gene (Select 23352) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185846	NM_020765.3(UBR4):c.6040G>A (p.Glu2014Lys)	LOC126805643, UBR4 (E2014K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185840	NM_020765.3(UBR4):c.40C>T (p.Pro14Ser)	LOC129929564, UBR4 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185833	NM_020765.3(UBR4):c.31G>A (p.Ala11Thr)	LOC129929564, UBR4 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185823	NM_020765.3(UBR4):c.152A>C (p.Gln51Pro)	LOC129929564, UBR4 (Q51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185822	NM_020765.3(UBR4):c.15179G>A (p.Arg5060Gln)	LOC126805640, UBR4 (R5060Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185821	NM_020765.3(UBR4):c.15163C>T (p.Arg5055Cys)	LOC126805640, UBR4 (R5055C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185818	NM_020765.3(UBR4):c.14536A>C (p.Lys4846Gln)	LOC129929563, UBR4 (K4846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185800	NM_020765.3(UBR4):c.10282G>A (p.Ala3428Thr)	LOC126805641, UBR4 (A3428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185799	NM_020765.3(UBR4):c.10274G>A (p.Arg3425His)	LOC126805641, UBR4 (R3425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185798	NM_020765.3(UBR4):c.10157G>A (p.Ser3386Asn)	LOC126805641, UBR4 (S3386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050592	NM_020765.3(UBR4):c.10245C>T (p.Phe3415=)	LOC126805641, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3048108	NM_020765.3(UBR4):c.5286C>T (p.Ser1762=)	LOC126805644, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 3039925	NM_020765.3(UBR4):c.5883C>A (p.Pro1961=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2690412	NM_020765.3(UBR4):c.1178G>A (p.Ser393Asn)	UBR4 (S393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690411	NM_020765.3(UBR4):c.13391-1G>A	UBR4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2685355	GRCh37/hg19 1p36.13(chr1:19377286-19452412)x1	UBR4	Copy number loss	not provided	GUncertain significance
Select item 2638429	NM_020765.3(UBR4):c.-4G>A	LOC129929564, UBR4	Single nucleotide variant (5 prime UTR variant)	UBR4-related disorder +1 more	GBenign
Select item 2638412	NM_020765.3(UBR4):c.14493C>T (p.Ile4831=)	LOC129929563, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638411	NM_020765.3(UBR4):c.15009-175C>T	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638410	NM_020765.3(UBR4):c.15009-174G>A	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638409	NM_020765.3(UBR4):c.15062C>T (p.Pro5021Leu)	LOC126805640, UBR4 (P5021L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607057	NM_020765.3(UBR4):c.5119G>A (p.Ala1707Thr)	LOC126805644, UBR4 (A1707T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564912	NM_020765.3(UBR4):c.10387C>T (p.Arg3463Cys)	LOC126805641, UBR4 (R3463C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564392	NM_020765.3(UBR4):c.15170A>C (p.Glu5057Ala)	LOC126805640, UBR4 (E5057A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555413	NM_020765.3(UBR4):c.10238G>A (p.Arg3413His)	LOC126805641, UBR4 (R3413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551589	NM_020765.3(UBR4):c.10218A>C (p.Glu3406Asp)	LOC126805641, UBR4 (E3406D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544023	NM_020765.3(UBR4):c.5250G>T (p.Arg1750Ser)	LOC126805644, UBR4 (R1750S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536605	NM_020765.3(UBR4):c.10180G>A (p.Ala3394Thr)	LOC126805641, UBR4 (A3394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512405	NM_020765.3(UBR4):c.56C>G (p.Pro19Arg)	LOC129929564, UBR4 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492471	NM_020765.3(UBR4):c.15208G>A (p.Ala5070Thr)	LOC126805640, UBR4 (A5070T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429991	NM_020765.3(UBR4):c.10498C>T (p.Gln3500Ter)	UBR4 (Q3500*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2393156	NM_020765.3(UBR4):c.70G>C (p.Asp24His)	LOC129929564, UBR4 (D24H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380542	NM_020765.3(UBR4):c.5903C>T (p.Ala1968Val)	LOC126805643, UBR4 (A1968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370408	NM_020765.3(UBR4):c.76A>G (p.Thr26Ala)	LOC129929564, UBR4 (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365280	NM_020765.3(UBR4):c.47C>T (p.Pro16Leu)	LOC129929564, UBR4 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356149	NM_020765.3(UBR4):c.15170A>G (p.Glu5057Gly)	LOC126805640, UBR4 (E5057G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347963	NM_020765.3(UBR4):c.10348C>G (p.Leu3450Val)	LOC126805641, UBR4 (L3450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326629	NM_020765.3(UBR4):c.5068G>A (p.Val1690Ile)	LOC126805644, UBR4 (V1690I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314252	NM_020765.3(UBR4):c.5767G>C (p.Val1923Leu)	LOC126805643, UBR4 (V1923L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296445	NM_020765.3(UBR4):c.15206G>A (p.Arg5069Gln)	LOC126805640, UBR4 (R5069Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293757	NM_020765.3(UBR4):c.5993C>T (p.Thr1998Met)	LOC126805643, UBR4 (T1998M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268462	NM_020765.3(UBR4):c.10205T>C (p.Phe3402Ser)	LOC126805641, UBR4 (F3402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255226	NM_020765.3(UBR4):c.4978A>G (p.Lys1660Glu)	LOC126805644, UBR4 (K1660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246563	NM_020765.3(UBR4):c.5954C>G (p.Ser1985Cys)	LOC126805643, UBR4 (S1985C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223772	NM_020765.3(UBR4):c.15160A>G (p.Thr5054Ala)	LOC126805640, UBR4 (T5054A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221603	NM_020765.3(UBR4):c.9709G>A (p.Val3237Met)	LOC126805642, UBR4 (V3237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210084	NM_020765.3(UBR4):c.5767G>A (p.Val1923Ile)	LOC126805643, UBR4 (V1923I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205611	NM_020765.3(UBR4):c.5386C>T (p.Arg1796Trp)	LOC126805644, UBR4 (R1796W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701669	NM_020765.3(UBR4):c.4409G>A (p.Arg1470His)	UBR4 (R1470H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696721	NM_020765.3(UBR4):c.14998G>A (p.Val5000Ile)	UBR4 (V5000I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213803	NM_020765.3(UBR4):c.4387C>T (p.Arg1463Cys)	UBR4 (R1463C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994346	NM_020765.3(UBR4):c.11615G>C (p.Cys3872Ser)	UBR4 (C3872S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798895	NM_020765.3(UBR4):c.5766C>T (p.Thr1922=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GLikely benign
Select item 741319	NM_020765.3(UBR4):c.15233+8C>T	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 737718	NM_020765.3(UBR4):c.6039C>T (p.Thr2013=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734105	NM_020765.3(UBR4):c.6072+5A>G	UBR4, LOC126805643	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 727570	NM_020765.3(UBR4):c.9717G>A (p.Gly3239=)	LOC126805642, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719165	NM_020765.3(UBR4):c.10215G>A (p.Lys3405=)	LOC126805641, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder +1 more	GBenign/Likely benign
Select item 712342	NM_020765.3(UBR4):c.5213C>G (p.Ser1738Cys)	LOC126805644, UBR4 (S1738C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 599553	NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)	UBR4 (P4610T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599552	NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)	UBR4 (G2109S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599550	NM_020765.3(UBR4):c.10388G>A (p.Arg3463His)	LOC126805641, UBR4 (R3463H)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599502	NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)	UBR4 (R1349G)	Single nucleotide variant (missense variant)	UBR4-associated neurodevelopmental syndrome	GUncertain significance
Select item 599501	NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser)	UBR4 (N2344S)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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Links from Gene

Items: 64