ClinVar for Gene (Select 103091864) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358036	NM_001080467.3(MYO5B):c.4385_4386del (p.Lys1462fs)	MYO5B, SNHG22 (K1462fs)	Deletion (frameshift variant)	MYO5B-related disorder	GLikely pathogenic
Select item 3357084	NM_001080467.3(MYO5B):c.4613A>C (p.Lys1538Thr)	MYO5B, SNHG22 (K1538T)	Single nucleotide variant (missense variant)	MYO5B-related disorder	GUncertain significance
Select item 3349424	NM_001080467.3(MYO5B):c.4771C>T (p.Arg1591Cys)	MYO5B, SNHG22 (R1591C)	Single nucleotide variant (missense variant)	MYO5B-related disorder	GUncertain significance
Select item 3345740	NM_001080467.3(MYO5B):c.5115T>C (p.Ser1705=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3297898	NM_001080467.3(MYO5B):c.5155C>T (p.Leu1719Phe)	MYO5B, SNHG22 (L1719F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297894	NM_001080467.3(MYO5B):c.4304A>G (p.Gln1435Arg)	LOC126862745, MYO5B +1 more (Q1435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165410	NM_001080467.3(MYO5B):c.5410C>T (p.Arg1804Trp)	MYO5B, SNHG22 (R1804W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165387	NM_001080467.3(MYO5B):c.4907C>T (p.Thr1636Ile)	MYO5B, SNHG22 (T1636I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165385	NM_001080467.3(MYO5B):c.4869A>T (p.Glu1623Asp)	MYO5B, SNHG22 (E1623D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165352	NM_001080467.3(MYO5B):c.4381C>T (p.Arg1461Trp)	MYO5B, SNHG22 (R1461W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061741	NM_001080467.3(MYO5B):c.4612-10C>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	MYO5B-related disorder	GLikely benign
Select item 3061710	NM_001080467.3(MYO5B):c.4791T>C (p.Leu1597=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3061550	NM_001080467.3(MYO5B):c.4395T>C (p.Asp1465=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3054835	NM_001080467.3(MYO5B):c.5346G>A (p.Leu1782=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3052443	NM_001080467.3(MYO5B):c.5430G>A (p.Leu1810=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3050860	NM_001080467.3(MYO5B):c.4875G>A (p.Glu1625=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3031684	NM_001080467.3(MYO5B):c.5313+5A>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	MYO5B-related disorder	GLikely benign
Select item 3029903	NM_001080467.3(MYO5B):c.5112C>T (p.Cys1704=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	MYO5B-related disorder	GLikely benign
Select item 3007704	NM_001080467.3(MYO5B):c.4315+18_4315+21del	LOC126862745, MYO5B +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3005757	NM_001080467.3(MYO5B):c.5313+15C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002839	NM_001080467.3(MYO5B):c.5017T>C (p.Leu1673=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998006	NM_001080467.3(MYO5B):c.5313+18C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992938	NM_001080467.3(MYO5B):c.5139-7G>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988765	NM_001080467.3(MYO5B):c.4315+13G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987574	NM_001080467.3(MYO5B):c.4540T>A (p.Tyr1514Asn)	MYO5B, SNHG22 (Y1514N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981098	NM_001080467.3(MYO5B):c.4853-19A>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973526	NM_001080467.3(MYO5B):c.5138+15C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973524	NM_001080467.3(MYO5B):c.4734T>C (p.Asn1578=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973125	NM_001080467.3(MYO5B):c.4836G>A (p.Val1612=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970895	NM_001080467.3(MYO5B):c.4702-16G>A	MYO5B, SNHG22	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2968635	NM_001080467.3(MYO5B):c.4533C>T (p.His1511=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968450	NM_001080467.3(MYO5B):c.5395-5C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962356	NM_001080467.3(MYO5B):c.5139-11C>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961840	NM_001080467.3(MYO5B):c.5313+11T>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959728	NM_001080467.3(MYO5B):c.5314-9C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915753	NM_001080467.3(MYO5B):c.4827C>T (p.Ala1609=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910560	NM_001080467.3(MYO5B):c.4692C>T (p.Ser1564=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901704	NM_001080467.3(MYO5B):c.5343C>T (p.Pro1781=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898109	NM_001080467.3(MYO5B):c.4503C>T (p.Pro1501=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897440	NM_001080467.3(MYO5B):c.4545C>T (p.Thr1515=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889331	NM_001080467.3(MYO5B):c.4316-8C>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879244	NM_001080467.3(MYO5B):c.5457T>A (p.Pro1819=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874459	NM_001080467.3(MYO5B):c.4845G>T (p.Pro1615=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864580	NM_001080467.3(MYO5B):c.5394+19A>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860900	NM_001080467.3(MYO5B):c.4349G>T (p.Arg1450Leu)	MYO5B, SNHG22 (R1450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844504	NM_001080467.3(MYO5B):c.5434T>C (p.Leu1812=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837958	NM_001080467.3(MYO5B):c.4552dup (p.Asp1518fs)	MYO5B, SNHG22 (D1518fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2837537	NM_001080467.3(MYO5B):c.4290C>T (p.Tyr1430=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832991	NM_001080467.3(MYO5B):c.5344C>T (p.Leu1782=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828118	NM_001080467.3(MYO5B):c.4572G>A (p.Leu1524=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827695	NM_001080467.3(MYO5B):c.4299A>G (p.Lys1433=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823242	NM_001080467.3(MYO5B):c.5043A>G (p.Val1681=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811791	NM_001080467.3(MYO5B):c.5314-15T>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797920	NM_001080467.3(MYO5B):c.4338_4341del (p.Ser1446fs)	MYO5B, SNHG22 (S1446fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2786111	NM_001080467.3(MYO5B):c.4612-20A>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764591	NM_001080467.3(MYO5B):c.5233C>G (p.Gln1745Glu)	MYO5B, SNHG22 (Q1745E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762113	NM_001080467.3(MYO5B):c.5253G>A (p.Lys1751=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737651	NM_001080467.3(MYO5B):c.5427A>G (p.Gln1809=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719472	NM_001080467.3(MYO5B):c.5376C>T (p.Ala1792=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712321	NM_001080467.3(MYO5B):c.5107G>A (p.Val1703Ile)	MYO5B, SNHG22 (V1703I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2703820	NM_001080467.3(MYO5B):c.4248G>A (p.Leu1416=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648714	NM_001080467.3(MYO5B):c.5016C>T (p.Gly1672=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648713	NM_001080467.3(MYO5B):c.5094C>G (p.Leu1698=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648712	NM_001080467.3(MYO5B):c.5095T>C (p.Leu1699=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637100	NM_001080467.3(MYO5B):c.4288T>C (p.Tyr1430His)	LOC126862745, MYO5B +1 more (Y1430H)	Single nucleotide variant (missense variant)	MYO5B-related disorder	GUncertain significance
Select item 2628681	NM_001080467.3(MYO5B):c.5512G>A (p.Ala1838Thr)	MYO5B, SNHG22 (A1838T)	Single nucleotide variant (missense variant)	MYO5B-related disorder	GUncertain significance
Select item 2599793	NM_001080467.3(MYO5B):c.4405A>C (p.Met1469Leu)	MYO5B, SNHG22 (M1469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549674	NM_001080467.3(MYO5B):c.4468C>A (p.Pro1490Thr)	MYO5B, SNHG22 (P1490T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535821	NM_001080467.3(MYO5B):c.4405A>G (p.Met1469Val)	MYO5B, SNHG22 (M1469V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528273	NM_001080467.3(MYO5B):c.4862T>C (p.Met1621Thr)	MYO5B, SNHG22 (M1621T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455672	NM_001080467.3(MYO5B):c.4591G>A (p.Gly1531Ser)	MYO5B, SNHG22 (G1531S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421036	NM_001080467.3(MYO5B):c.4828G>A (p.Glu1610Lys)	MYO5B, SNHG22 (E1610K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420548	NM_001080467.3(MYO5B):c.4845G>A (p.Pro1615=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415916	NM_001080467.3(MYO5B):c.4908C>T (p.Thr1636=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356921	NM_001080467.3(MYO5B):c.5516G>T (p.Cys1839Phe)	MYO5B, SNHG22 (C1839F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288823	NM_001080467.3(MYO5B):c.5024C>G (p.Pro1675Arg)	MYO5B, SNHG22 (P1675R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282085	NM_001080467.3(MYO5B):c.5438A>C (p.Asp1813Ala)	MYO5B, SNHG22 (D1813A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265716	NM_001080467.3(MYO5B):c.4616A>G (p.His1539Arg)	MYO5B, SNHG22 (H1539R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249845	NM_001080467.3(MYO5B):c.5461T>G (p.Leu1821Val)	MYO5B, SNHG22 (L1821V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2242082	NM_001080467.3(MYO5B):c.4655A>G (p.Asn1552Ser)	MYO5B, SNHG22 (N1552S)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 10 +1 more	GUncertain significance
Select item 2188870	NM_001080467.3(MYO5B):c.5171G>A (p.Arg1724Gln)	MYO5B, SNHG22 (R1724Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177110	NM_001080467.3(MYO5B):c.4373C>T (p.Thr1458Met)	MYO5B, SNHG22 (T1458M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174803	NM_001080467.3(MYO5B):c.4443C>A (p.Ile1481=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172136	NM_001080467.3(MYO5B):c.4844C>T (p.Pro1615Leu)	MYO5B, SNHG22 (P1615L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171138	NM_001080467.3(MYO5B):c.4585A>G (p.Ile1529Val)	MYO5B, SNHG22 (I1529V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158246	NM_001080467.3(MYO5B):c.4430A>G (p.Glu1477Gly)	MYO5B, SNHG22 (E1477G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124865	NM_001080467.3(MYO5B):c.4509C>T (p.Tyr1503=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2121347	NM_001080467.3(MYO5B):c.4776G>C (p.Gln1592His)	MYO5B, SNHG22 (Q1592H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115255	NM_001080467.3(MYO5B):c.4872T>C (p.Asn1624=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113541	NM_001080467.3(MYO5B):c.5476C>T (p.Pro1826Ser)	MYO5B, SNHG22 (P1826S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100978	NM_001080467.3(MYO5B):c.5138+19C>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092619	NM_001080467.3(MYO5B):c.4523G>A (p.Cys1508Tyr)	MYO5B, SNHG22 (C1508Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091870	NM_001080467.3(MYO5B):c.5395-20G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074865	NM_001080467.3(MYO5B):c.5458G>A (p.Val1820Ile)	MYO5B, SNHG22 (V1820I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074332	NM_001080467.3(MYO5B):c.5520C>T (p.Leu1840=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066543	NM_001080467.3(MYO5B):c.4611+5G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2051400	NM_001080467.3(MYO5B):c.5470T>C (p.Phe1824Leu)	MYO5B, SNHG22 (F1824L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051025	NM_001080467.3(MYO5B):c.4611+9C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034882	NM_001080467.3(MYO5B):c.5362C>T (p.Arg1788Trp)	MYO5B, SNHG22 (R1788W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023638	NM_001080467.3(MYO5B):c.4701+3G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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