ClinVar for Gene (Select 9179) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4632610	NM_139315.3(TAF6):c.1567G>T (p.Ala523Ser)	AP4M1, TAF6 (A560S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4632608	NM_139315.3(TAF6):c.1880C>T (p.Pro627Leu)	AP4M1, TAF6 (P664L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4632606	NM_139315.3(TAF6):c.1732G>A (p.Val578Met)	AP4M1, TAF6 (V624M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4632604	NM_139315.3(TAF6):c.1574C>T (p.Ala525Val)	AP4M1, TAF6 (A515V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4582390	NM_004722.4(AP4M1):c.157G>A (p.Gly53Ser)	AP4M1 (G60S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 4582380	NM_004722.4(AP4M1):c.490G>A (p.Val164Met)	AP4M1 (V96M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4537428	NM_004722.4(AP4M1):c.351+5G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 4536609	NM_004722.4(AP4M1):c.902_903del (p.Ser301fs)	AP4M1 (S173fs +3 more)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 4341465	NM_139315.3(TAF6):c.1458+11G>A	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Not Specified
Select item 4341464	NM_139315.3(TAF6):c.1459-2A>G	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Not Specified
Select item 4341463	NM_139315.3(TAF6):c.1459-1G>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Not Specified
Select item 4341462	NM_139315.3(TAF6):c.1462C>A (p.Arg488=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	Not Specified
Select item 4341461	NM_139315.3(TAF6):c.1657-78C>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Not Specified
Select item 4341460	NM_139315.3(TAF6):c.1657-11T>C	AP4M1, TAF6	Single nucleotide variant (intron variant +2 more)	Not Specified
Select item 4341459	NM_139315.3(TAF6):c.1657-8C>G	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	Not Specified
Select item 4341458	NM_139315.3(TAF6):c.1969G>T (p.Ala657Ser)	AP4M1, TAF6 (A647S +3 more)	Single nucleotide variant (missense variant +2 more)	Not Specified
Select item 4341456	NM_004722.4(AP4M1):c.974+2T>C	AP4M1	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified
Select item 4341455	NM_004722.4(AP4M1):c.974+1G>C	AP4M1	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified
Select item 4341454	NM_004722.4(AP4M1):c.835-15T>G	AP4M1	Single nucleotide variant (intron variant)	Not Specified
Select item 4341453	NM_004722.4(AP4M1):c.607-1G>T	AP4M1	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4341452	NM_004722.4(AP4M1):c.544-3C>A	AP4M1	Single nucleotide variant (intron variant)	Not Specified
Select item 4341451	NM_004722.4(AP4M1):c.542A>T (p.Gln181Leu)	AP4M1 (Q113L +3 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4341450	NM_004722.4(AP4M1):c.462+5G>A	AP4M1	Single nucleotide variant (intron variant)	Not Specified
Select item 4341449	NM_004722.4(AP4M1):c.352-168A>T	AP4M1	Single nucleotide variant (intron variant)	Not Specified
Select item 4341448	NM_004722.4(AP4M1):c.351+151G>T	AP4M1	Single nucleotide variant (intron variant)	Not Specified
Select item 4341447	NM_004722.4(AP4M1):c.254+2T>C	AP4M1	Single nucleotide variant (splice donor variant +1 more)	Not Specified
Select item 4341446	NM_004722.4(AP4M1):c.208A>T (p.Thr70Ser)	AP4M1 (T77S +1 more)	Single nucleotide variant (missense variant +3 more)	Not Specified
Select item 4341444	NM_004722.3:c.-169A>T	AP4M1	Single nucleotide variant	Not Specified
Select item 4341443	NM_005916.5(MCM7):c.-39C>G	AP4M1, MCM7	Single nucleotide variant (5 prime UTR variant +1 more)	Not Specified
Select item 4179725	NM_139315.3(TAF6):c.1825G>A (p.Val609Ile)	AP4M1, TAF6 (V599I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4179724	NM_139315.3(TAF6):c.1763C>T (p.Ala588Val)	AP4M1, TAF6 (A578V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4179722	NM_139315.3(TAF6):c.2018C>T (p.Pro673Leu)	AP4M1, TAF6 (P663L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4179721	NM_139315.3(TAF6):c.1561G>T (p.Val521Leu)	AP4M1, TAF6 (V558L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4179712	NM_139315.3(TAF6):c.1933G>T (p.Gly645Trp)	AP4M1, TAF6 (G645W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4116002	NM_004722.4(AP4M1):c.43C>T (p.Leu15Phe)	AP4M1 (L15F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4115994	NM_004722.4(AP4M1):c.584T>C (p.Leu195Ser)	AP4M1 (L127S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115990	NM_004722.4(AP4M1):c.1210C>T (p.Pro404Ser)	AP4M1 (P336S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4115971	NM_004722.4(AP4M1):c.1150G>A (p.Gly384Arg)	AP4M1 (G384R +3 more)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 4077175	NM_004722.4(AP4M1):c.1025+2dup	AP4M1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 4070523	NM_004722.4(AP4M1):c.351+1G>A	AP4M1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 3965199	NM_139315.3(TAF6):c.1775C>A (p.Pro592His)	AP4M1, TAF6 (P592H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3965198	NM_139315.3(TAF6):c.1744G>A (p.Val582Ile)	AP4M1, TAF6 (V628I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3965193	NM_139315.3(TAF6):c.1798C>T (p.Pro600Ser)	AP4M1, TAF6 (P590S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3965192	NM_139315.3(TAF6):c.1822G>A (p.Val608Met)	AP4M1, TAF6 (V654M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3965191	NM_139315.3(TAF6):c.1591C>T (p.Pro531Ser)	AP4M1, TAF6 (P531S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3965190	NM_139315.3(TAF6):c.1639G>A (p.Ala547Thr)	AP4M1, TAF6 (A593T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3923475	NM_004722.4(AP4M1):c.1288C>T (p.Pro430Ser)	AP4M1 (P437S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923464	NM_004722.4(AP4M1):c.1010C>T (p.Pro337Leu)	AP4M1 (P337L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923455	NM_004722.4(AP4M1):c.22C>G (p.Leu8Val)	AP4M1 (L8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923444	NM_004722.4(AP4M1):c.937G>C (p.Val313Leu)	AP4M1 (V313L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923439	NM_004722.4(AP4M1):c.1341C>A (p.Asp447Glu)	AP4M1 (D447E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923438	NM_004722.4(AP4M1):c.601T>C (p.Ser201Pro)	AP4M1 (S208P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923437	NM_004722.4(AP4M1):c.829G>A (p.Gly277Ser)	AP4M1 (G277S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923436	NM_004722.4(AP4M1):c.661C>T (p.Pro221Ser)	AP4M1 (P228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923430	NM_004722.4(AP4M1):c.19A>G (p.Ile7Val)	AP4M1 (I7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923425	NM_004722.4(AP4M1):c.198G>C (p.Leu66Phe)	AP4M1 (L73F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923407	NM_004722.4(AP4M1):c.761C>T (p.Ser254Leu)	AP4M1 (S261L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3906050	NM_139315.3(TAF6):c.1358G>A (p.Gly453Glu)	AP4M1, TAF6 (G443E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3901054	NM_004722.4(AP4M1):c.958G>A (p.Asp320Asn)	AP4M1 (D320N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 3898816	NM_004722.4(AP4M1):c.1238G>C (p.Arg413Pro)	AP4M1 (R413P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3898815	NM_004722.4(AP4M1):c.359G>T (p.Gly120Val)	AP4M1 (G120V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3877499	NM_004722.4(AP4M1):c.77G>A (p.Gly26Asp)	AP4M1 (G26D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3877449	NM_004722.4(AP4M1):c.1244C>T (p.Thr415Met)	AP4M1 (T415M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3877439	NM_004722.4(AP4M1):c.31A>C (p.Lys11Gln)	AP4M1 (K11Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3804019	NM_139315.3(TAF6):c.2003C>A (p.Pro668His)	AP4M1, TAF6 (P705H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3804018	NM_139315.3(TAF6):c.1505G>A (p.Arg502His)	AP4M1, TAF6 (R492H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3804017	NM_139315.3(TAF6):c.1540G>A (p.Ala514Thr)	AP4M1, TAF6 (A504T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3804016	NM_139315.3(TAF6):c.1504C>T (p.Arg502Cys)	AP4M1, TAF6 (R492C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3779583	NM_004722.4(AP4M1):c.1270C>T (p.Leu424Phe)	AP4M1 (L424F +1 more)	Single nucleotide variant (missense variant)	AP-4 deficiency syndrome	GUncertain significance
Select item 3775613	NM_004722.4(AP4M1):c.128_132del (p.Asp43fs)	AP4M1 (D43fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 3766168	NM_004722.4(AP4M1):c.1223_1225del (p.Ser408del)	AP4M1 (S408del +1 more)	Deletion	not provided	GLikely pathogenic
Select item 3722055	NM_004722.4(AP4M1):c.196T>C (p.Leu66=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3716588	NM_139315.3(TAF6):c.1316G>A (p.Arg439His)	AP4M1, TAF6 (R485H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3714605	NM_139315.3(TAF6):c.1470G>A (p.Thr490=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3707549	NM_004722.4(AP4M1):c.616C>T (p.Leu206=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3706248	NM_004722.4(AP4M1):c.585G>A (p.Leu195=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3704703	NM_004722.4(AP4M1):c.728-8C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3703398	NM_139315.3(TAF6):c.1821C>A (p.Ile607=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3703195	NM_004722.4(AP4M1):c.819A>G (p.Gln273=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3699529	NM_139315.3(TAF6):c.1831C>A (p.Leu611Ile)	AP4M1, TAF6 (L648I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3697617	NM_004722.4(AP4M1):c.843G>A (p.Val281=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3686832	NM_004722.4(AP4M1):c.254+17T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3681076	NM_004722.4(AP4M1):c.476C>T (p.Thr159Ile)	AP4M1 (T166I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 3673526	NM_004722.4(AP4M1):c.393G>A (p.Arg131=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3668601	NM_004722.4(AP4M1):c.990C>T (p.Val330=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3664639	NM_004722.4(AP4M1):c.1138-15C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3657299	NM_004722.4(AP4M1):c.930-11C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3652427	NM_004722.4(AP4M1):c.147+16_147+22dup	AP4M1	Duplication (splice donor variant +1 more)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3649326	NM_004722.4(AP4M1):c.840T>G (p.Thr280=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3631698	NM_004722.4(AP4M1):c.147+18dup	AP4M1 (R56fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3628139	NM_004722.4(AP4M1):c.463-15T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3615573	NM_004722.4(AP4M1):c.336C>T (p.Leu112=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3608275	NM_004722.4(AP4M1):c.975-15C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 3594978	NM_139315.3(TAF6):c.1976G>T (p.Gly659Val)	AP4M1, TAF6 (G659V +3 more)	Single nucleotide variant (missense variant +2 more)	Alazami-Yuan syndrome	GUncertain significance
Select item 3452711	NM_139315.3(TAF6):c.1931G>A (p.Cys644Tyr)	AP4M1, TAF6 (C690Y +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3452710	NM_139315.3(TAF6):c.1568C>T (p.Ala523Val)	AP4M1, TAF6 (A513V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3452709	NM_139315.3(TAF6):c.1762G>A (p.Ala588Thr)	AP4M1, TAF6 (A625T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3404589	NM_004722.4(AP4M1):c.503G>A (p.Ser168Asn)	AP4M1 (S168N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3404588	NM_004722.4(AP4M1):c.821C>G (p.Pro274Arg)	AP4M1 (P274R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3404587	NM_004722.4(AP4M1):c.812G>C (p.Arg271Pro)	AP4M1 (R278P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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