"PreventionGenetics, part of Exact Sciences"[submitter] AND "UNC80"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710314	NM_001371986.1(UNC80):c.92+7G>A	UNC80	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GBenign/Likely benign
Select item 784460	NM_001371986.1(UNC80):c.391C>T (p.Arg131Trp)	UNC80 (R131W)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GBenign
Select item 1952272	NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)	UNC80 (W141*)	Single nucleotide variant (nonsense)	UNC80-related condition +1 more	GPathogenic/Likely pathogenic
Select item 377285	NM_001371986.1(UNC80):c.600+5G>A	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition +1 more	GBenign
Select item 3050856	NM_001371986.1(UNC80):c.601-8C>T	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition	GLikely benign
Select item 595468	NM_001371986.1(UNC80):c.672C>T (p.Pro224=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +2 more	GBenign
Select item 773433	NM_001371986.1(UNC80):c.765T>C (p.Cys255=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1636509	NM_001371986.1(UNC80):c.903C>G (p.Ser301=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3048298	NM_001371986.1(UNC80):c.1020G>T (p.Gln340His)	UNC80 (Q340H)	Single nucleotide variant (missense variant)	UNC80-related condition	GLikely benign
Select item 3049153	NM_001371986.1(UNC80):c.1021C>T (p.Pro341Ser)	UNC80 (P341S)	Single nucleotide variant (missense variant)	UNC80-related condition	GLikely benign
Select item 219189	NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)	UNC80 (R360*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1166034	NM_001371986.1(UNC80):c.1221C>T (p.Asn407=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789564	NM_001371986.1(UNC80):c.1585G>T (p.Ala529Ser)	UNC80 (A529S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 788480	NM_001371986.1(UNC80):c.1620C>G (p.Ser540=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 789565	NM_001371986.1(UNC80):c.1659C>G (p.Pro553=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789566	NM_001371986.1(UNC80):c.1725G>A (p.Ala575=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 268207	NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	UNC80 (Q602H)	Single nucleotide variant (missense variant)	UNC80-related condition +6 more	GConflicting classifications of pathogenicity
Select item 789567	NM_001371986.1(UNC80):c.2006G>C (p.Ser669Thr)	UNC80 (S669T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 756685	NM_001371986.1(UNC80):c.2220T>A (p.Gly740=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GBenign
Select item 708532	NM_001371986.1(UNC80):c.2231A>G (p.Glu744Gly)	UNC80 (E744G)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 1514454	NM_001371986.1(UNC80):c.2615C>T (p.Pro872Leu)	UNC80 (P867L +1 more)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GUncertain significance
Select item 708763	NM_001371986.1(UNC80):c.2616G>A (p.Pro872=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GLikely benign
Select item 3040685	NM_001371986.1(UNC80):c.2700C>T (p.Ile900=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition	GLikely benign
Select item 1560998	NM_001371986.1(UNC80):c.2943-10A>T	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 789568	NM_001371986.1(UNC80):c.3000T>C (p.Cys1000=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1914978	NM_001371986.1(UNC80):c.3045T>C (p.Asp1015=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 789569	NM_001371986.1(UNC80):c.3078A>G (p.Lys1026=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 789570	NM_001371986.1(UNC80):c.3202T>G (p.Ser1068Ala)	UNC80 (S1068A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 730213	NM_001371986.1(UNC80):c.3243C>T (p.Leu1081=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 376940	NM_001371986.1(UNC80):c.3250+9A>G	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 789571	NM_001371986.1(UNC80):c.3264G>A (p.Lys1088=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1408418	NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala)	UNC80 (E1140A +2 more)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3057505	NM_001371986.1(UNC80):c.3977-5C>A	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition	GLikely benign
Select item 594022	NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)	UNC80 (P1383A +2 more)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1594373	NM_001371986.1(UNC80):c.4263C>T (p.Val1421=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 736041	NM_001371986.1(UNC80):c.4481-5T>C	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 787655	NM_001371986.1(UNC80):c.4572G>A (p.Ser1524=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1503935	NM_001371986.1(UNC80):c.4622C>T (p.Thr1541Ile)	UNC80 (T1470I +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +3 more	GUncertain significance
Select item 3045227	NM_001371986.1(UNC80):c.4726C>T (p.Leu1576=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition	GLikely benign
Select item 1661229	NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln)	UNC80 (R1517Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1537828	NM_001371986.1(UNC80):c.4890+7T>C	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition +1 more	GLikely benign
Select item 3040943	NM_001371986.1(UNC80):c.4926A>G (p.Leu1642=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition	GLikely benign
Select item 1568270	NM_001371986.1(UNC80):c.5070C>T (p.Ala1690=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 738186	NM_001371986.1(UNC80):c.5127C>T (p.Asn1709=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 785989	NM_001371986.1(UNC80):c.5307C>T (p.Ser1769=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2190358	NM_001371986.1(UNC80):c.5715A>G (p.Pro1905=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1638983	NM_001371986.1(UNC80):c.5745A>G (p.Ala1915=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730255	NM_001371986.1(UNC80):c.6165C>T (p.Thr2055=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 2903334	NM_001371986.1(UNC80):c.6534C>G (p.Pro2178=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 724488	NM_001371986.1(UNC80):c.6702G>A (p.Leu2234=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 2993616	NM_001371986.1(UNC80):c.6915+7A>G	UNC80	Single nucleotide variant (intron variant)	UNC80-related condition +1 more	GLikely benign
Select item 1598640	NM_001371986.1(UNC80):c.7806-17AT[8]	UNC80	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1900316	NM_001371986.1(UNC80):c.7806-17AT[5]	UNC80	Microsatellite (intron variant)	UNC80-related condition +1 more	GLikely benign
Select item 1659819	NM_001371986.1(UNC80):c.7938G>A (p.Pro2646=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 1585883	NM_001371986.1(UNC80):c.8006+8T>C	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1609006	NM_001371986.1(UNC80):c.8109G>T (p.Leu2703=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 749801	NM_001371986.1(UNC80):c.8166T>C (p.Asp2722=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030794	NM_001371986.1(UNC80):c.8244A>G (p.Ala2748=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition	GLikely benign
Select item 450474	NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val)	UNC80 (A2777V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 791886	NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +2 more	GBenign/Likely benign
Select item 2812556	NM_001371986.1(UNC80):c.8776C>T (p.Leu2926=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1574752	NM_001371986.1(UNC80):c.8811C>T (p.Ser2937=)	UNC80	Single nucleotide variant (synonymous variant)	UNC80-related condition +1 more	GLikely benign
Select item 1579290	NM_001371986.1(UNC80):c.9142G>A (p.Val3048Met)	UNC80 (V2977M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2192960	NM_001371986.1(UNC80):c.9345A>G (p.Gln3115=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +2 more	GConflicting classifications of pathogenicity
Select item 445867	NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu)	UNC80 (P3102L +2 more)	Single nucleotide variant (missense variant)	UNC80-related condition +1 more	GBenign/Likely benign
Select item 445362	NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg)	UNC80 (T3185R +2 more)	Single nucleotide variant (missense variant)	UNC80-related condition +2 more	GBenign/Likely benign
Select item 718730	NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)	UNC80 (Q3254K +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +3 more	GConflicting classifications of pathogenicity
Select item 1448104	NM_001371986.1(UNC80):c.9802G>C (p.Asp3268His)	UNC80 (D3178H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 746312	NM_001371986.1(UNC80):c.9885C>G (p.Gly3295=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713048	NM_001371986.1(UNC80):c.9945G>A (p.Thr3315=)	UNC80	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70