Related gene-specific medical variations for Gene (Select 285175) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186689	NM_001371986.1(UNC80):c.5128G>A (p.Ala1710Thr)	LOC126806490, UNC80 (A1639T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068002	NM_001371986.1(UNC80):c.6178+1G>C	UNC80	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 3000508	NM_001371986.1(UNC80):c.5310G>A (p.Gly1770=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992296	NM_001371986.1(UNC80):c.1626C>T (p.Ser542=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984874	NM_001371986.1(UNC80):c.3628-11A>G	LOC121725110, UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980265	NM_001371986.1(UNC80):c.5148G>A (p.Thr1716=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960371	NM_001371986.1(UNC80):c.5250G>A (p.Pro1750=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959966	NM_001371986.1(UNC80):c.3720A>G (p.Lys1240=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920703	NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)	UNC80 (R2113* +2 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GPathogenic
Select item 2880347	NM_001371986.1(UNC80):c.1668C>T (p.Ser556=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867489	NM_001371986.1(UNC80):c.5289G>T (p.Pro1763=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856343	NM_001371986.1(UNC80):c.3809A>T (p.Asn1270Ile)	LOC121725110, UNC80 (N1267I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850964	NM_001371986.1(UNC80):c.5343+19C>T	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846649	NM_001371986.1(UNC80):c.3816_3817del (p.Lys1273fs)	LOC121725110, UNC80 (K1273fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2844803	NM_001371986.1(UNC80):c.1693+11G>A	LOC122861286, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833646	NM_001371986.1(UNC80):c.5095T>A (p.Phe1699Ile)	LOC126806490, UNC80 (F1633I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829619	NM_001371986.1(UNC80):c.5310G>T (p.Gly1770=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814472	NM_001371986.1(UNC80):c.3828C>T (p.Tyr1276=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811247	NM_001371986.1(UNC80):c.3696T>A (p.Arg1232=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808398	NM_001371986.1(UNC80):c.5111C>T (p.Thr1704Ile)	LOC126806490, UNC80 (T1704I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801567	NM_001371986.1(UNC80):c.5247G>T (p.Ser1749=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794311	NM_001371986.1(UNC80):c.3774T>C (p.Ile1258=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786251	NM_001371986.1(UNC80):c.3730G>A (p.Val1244Met)	LOC121725110, UNC80 (V1241M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781904	NM_001371986.1(UNC80):c.3646A>C (p.Arg1216=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746321	NM_001371986.1(UNC80):c.1693+20dup	LOC122861286, UNC80	Duplication (intron variant)	not provided	GLikely benign
Select item 2707983	NM_001371986.1(UNC80):c.1677A>G (p.Glu559=)	LOC122861286, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705741	NM_001371986.1(UNC80):c.5030-8G>A	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694348	NM_001371986.1(UNC80):c.5097C>T (p.Phe1699=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651856	NM_001371986.1(UNC80):c.3687C>A (p.Arg1229=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627926	NM_001371986.1(UNC80):c.8218_8219insTGAA (p.Ser2740fs)	UNC80 (S2669fs +2 more)	Insertion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 2441932	NM_001371986.1(UNC80):c.3653C>T (p.Ala1218Val)	LOC121725110, UNC80 (A1215V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438489	NM_001371986.1(UNC80):c.764G>A (p.Cys255Tyr)	UNC80 (C255Y)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438488	NM_001371986.1(UNC80):c.9418C>T (p.Arg3140Cys)	UNC80 (R3050C +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438487	NM_001371986.1(UNC80):c.7843C>G (p.Pro2615Ala)	UNC80 (P2544A +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438486	NM_001371986.1(UNC80):c.4229_4240del (p.Ser1410_His1413del)	UNC80	Deletion (inframe_deletion)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2438485	NM_001371986.1(UNC80):c.6680A>G (p.Gln2227Arg)	UNC80 (Q2156R +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 2434438	NM_001371986.1(UNC80):c.7222del (p.Ser2408fs)	UNC80 (S2337fs +2 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GLikely pathogenic
Select item 2419443	NM_001371986.1(UNC80):c.5082G>A (p.Met1694Ile)	LOC126806490, UNC80 (M1623I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189558	NM_001371986.1(UNC80):c.5094G>A (p.Glu1698=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186334	NM_001371986.1(UNC80):c.5165A>C (p.Tyr1722Ser)	LOC126806490, UNC80 (Y1722S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175637	NM_001371986.1(UNC80):c.1684G>A (p.Val562Ile)	LOC122861286, UNC80 (V562I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171401	NM_001371986.1(UNC80):c.5035A>G (p.Met1679Val)	LOC126806490, UNC80 (M1613V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152957	NM_001371986.1(UNC80):c.5288C>T (p.Pro1763Leu)	LOC126806490, UNC80 (P1692L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128478	NM_001371986.1(UNC80):c.5061G>A (p.Val1687=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123552	NM_001371986.1(UNC80):c.5077G>A (p.Asp1693Asn)	LOC126806490, UNC80 (D1622N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120250	NM_001371986.1(UNC80):c.1688A>C (p.Lys563Thr)	UNC80, LOC122861286 (K563T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116325	NM_001371986.1(UNC80):c.1645G>C (p.Asp549His)	LOC122861286, UNC80 (D549H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113870	NM_001371986.1(UNC80):c.5104C>T (p.Pro1702Ser)	LOC126806490, UNC80 (P1636S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104659	NM_001371986.1(UNC80):c.3701A>G (p.Asn1234Ser)	LOC121725110, UNC80 (N1231S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093312	NM_001371986.1(UNC80):c.5171T>C (p.Val1724Ala)	LOC126806490, UNC80 (V1724A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093114	NM_001371986.1(UNC80):c.5208T>A (p.Phe1736Leu)	LOC126806490, UNC80 (F1736L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092642	NM_001371986.1(UNC80):c.3773T>C (p.Ile1258Thr)	LOC121725110, UNC80 (I1258T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087416	NM_001371986.1(UNC80):c.3628-17T>C	LOC121725110, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083803	NM_001371986.1(UNC80):c.5151C>G (p.Leu1717=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079927	NM_001371986.1(UNC80):c.1628A>G (p.His543Arg)	UNC80, LOC122861286 (H543R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060651	NM_001371986.1(UNC80):c.3840+6C>T	LOC121725110, UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2051312	NM_001371986.1(UNC80):c.1649T>C (p.Leu550Pro)	LOC122861286, UNC80 (L550P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045664	NM_001371986.1(UNC80):c.5211+8A>C	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024125	NM_001371986.1(UNC80):c.5085G>A (p.Leu1695=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010105	NM_001371986.1(UNC80):c.5249C>A (p.Pro1750Gln)	LOC126806490, UNC80 (P1679Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003080	NM_001371986.1(UNC80):c.5227A>T (p.Ile1743Phe)	LOC126806490, UNC80 (I1743F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992120	NM_001371986.1(UNC80):c.3723G>A (p.Gly1241=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977148	NM_001371986.1(UNC80):c.3690C>T (p.Cys1230=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976637	NM_001371986.1(UNC80):c.3686G>A (p.Arg1229His)	UNC80, LOC121725110 (R1229H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959234	NM_001371986.1(UNC80):c.3719A>C (p.Lys1240Thr)	UNC80, LOC121725110 (K1237T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953818	NM_001371986.1(UNC80):c.3807G>C (p.Trp1269Cys)	LOC121725110, UNC80 (W1271C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951001	NM_001371986.1(UNC80):c.5212-5A>G	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917254	NM_001371986.1(UNC80):c.5190A>G (p.Glu1730=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915118	NM_001371986.1(UNC80):c.5182A>C (p.Met1728Leu)	LOC126806490, UNC80 (M1657L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913480	NM_001371986.1(UNC80):c.5177C>T (p.Pro1726Leu)	LOC126806490, UNC80 (P1660L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911417	NM_001371986.1(UNC80):c.5275A>G (p.Met1759Val)	LOC126806490, UNC80 (M1693V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GUncertain significance
Select item 1910942	NM_001371986.1(UNC80):c.5080A>G (p.Met1694Val)	LOC126806490, UNC80 (M1694V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909184	NM_001371986.1(UNC80):c.3840C>T (p.Asp1280=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1902394	NM_001371986.1(UNC80):c.5265A>G (p.Pro1755=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902202	NM_001371986.1(UNC80):c.3819G>A (p.Lys1273=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900489	NM_001371986.1(UNC80):c.3762A>G (p.Gly1254=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712512	NM_001371986.1(UNC80):c.5132T>G (p.Val1711Gly)	LOC126806490, UNC80 (V1640G +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 1669634	NM_001371986.1(UNC80):c.5217G>A (p.Pro1739=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660719	NM_001371986.1(UNC80):c.5235C>T (p.Phe1745=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649754	NM_001371986.1(UNC80):c.3738C>T (p.Ile1246=)	LOC121725110, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649585	NM_001371986.1(UNC80):c.5343+19C>G	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635693	NM_001371986.1(UNC80):c.5212-17dup	LOC126806490, UNC80	Duplication (intron variant)	not provided	GLikely benign
Select item 1631574	NM_001371986.1(UNC80):c.5211+14C>G	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631321	NM_001371986.1(UNC80):c.5212-15G>C	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626970	NM_001371986.1(UNC80):c.5172C>T (p.Val1724=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623965	NM_001371986.1(UNC80):c.5109G>A (p.Glu1703=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620653	NM_001371986.1(UNC80):c.5106G>A (p.Pro1702=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614316	NM_001371986.1(UNC80):c.5030-8G>C	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592493	NM_001371986.1(UNC80):c.5212-8A>T	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591830	NM_001371986.1(UNC80):c.5046G>A (p.Leu1682=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571738	NM_001371986.1(UNC80):c.1689G>A (p.Lys563=)	UNC80, LOC122861286	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GConflicting classifications of pathogenicity
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 1557929	NM_001371986.1(UNC80):c.3628-5C>T	LOC121725110, UNC80	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540893	NM_001371986.1(UNC80):c.5211+18C>T	UNC80, LOC126806490	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530593	NM_001371986.1(UNC80):c.5076C>T (p.Ser1692=)	LOC126806490, UNC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525016	NM_001371986.1(UNC80):c.5162G>A (p.Arg1721His)	LOC126806490, UNC80 (R1650H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524021	NM_001371986.1(UNC80):c.5211+6G>C	LOC126806490, UNC80	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1523709	NM_001371986.1(UNC80):c.5147C>T (p.Thr1716Met)	LOC126806490, UNC80 (T1645M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507276	NM_001371986.1(UNC80):c.5173T>C (p.Trp1725Arg)	LOC126806490, UNC80 (W1654R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500353	NM_001371986.1(UNC80):c.3685C>T (p.Arg1229Cys)	LOC121725110, UNC80 (R1229C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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