ClinVar for Gene (Select 140469) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2651532	NM_138995.5(MYO3B):c.554G>A (p.Arg185His)	MYO3B (R185H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2618427	NM_138995.5(MYO3B):c.1699A>G (p.Arg567Gly)	MYO3B (R567G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615038	NM_138995.5(MYO3B):c.3772C>T (p.Arg1258Cys)	LOC100130256, MYO3B (R1231C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613876	NM_138995.5(MYO3B):c.968C>T (p.Thr323Ile)	MYO3B (T323I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602696	NM_138995.5(MYO3B):c.1027T>A (p.Cys343Ser)	MYO3B (C343S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595110	NM_138995.5(MYO3B):c.2189A>G (p.Gln730Arg)	MYO3B (Q730R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593440	NM_138995.5(MYO3B):c.3642G>A (p.Ser1214=)	MYO3B	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2591839	NM_138995.5(MYO3B):c.394A>G (p.Met132Val)	MYO3B (M132V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589575	NM_138995.5(MYO3B):c.842G>A (p.Arg281Gln)	MYO3B (R281Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552745	NM_138995.5(MYO3B):c.3965A>G (p.Asn1322Ser)	LOC100130256, MYO3B (N1295S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551862	NM_138995.5(MYO3B):c.2480G>A (p.Gly827Glu)	MYO3B (G827E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551120	NM_138995.5(MYO3B):c.79T>C (p.Trp27Arg)	MYO3B (W27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548549	NM_138995.5(MYO3B):c.2888G>A (p.Arg963Gln)	MYO3B (R963Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524241	NM_138995.5(MYO3B):c.203T>C (p.Ile68Thr)	MYO3B (I68T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522616	NM_138995.5(MYO3B):c.1787A>T (p.Asp596Val)	MYO3B (D596V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521479	NM_138995.5(MYO3B):c.655G>A (p.Val219Ile)	MYO3B (V219I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520375	NM_138995.5(MYO3B):c.285T>A (p.Asp95Glu)	MYO3B (D95E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494193	NM_138995.5(MYO3B):c.283G>C (p.Asp95His)	MYO3B (D95H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490394	NM_138995.5(MYO3B):c.2363C>T (p.Pro788Leu)	MYO3B (P788L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488240	NM_138995.5(MYO3B):c.3415G>A (p.Ala1139Thr)	MYO3B (A1112T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487128	NM_138995.5(MYO3B):c.1198T>C (p.Tyr400His)	MYO3B (Y400H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485036	NM_138995.5(MYO3B):c.439T>A (p.Leu147Met)	MYO3B (L147M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485035	NM_138995.5(MYO3B):c.438T>A (p.His146Gln)	MYO3B (H146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479130	NM_138995.5(MYO3B):c.614G>A (p.Cys205Tyr)	MYO3B (C205Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478272	NM_138995.5(MYO3B):c.2594G>A (p.Arg865Lys)	MYO3B (R865K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465894	NM_138995.5(MYO3B):c.2314G>C (p.Val772Leu)	MYO3B (V772L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464083	NM_138995.5(MYO3B):c.3037G>A (p.Ala1013Thr)	MYO3B (A1013T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455289	NM_138995.5(MYO3B):c.380G>A (p.Arg127Gln)	MYO3B (R127Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405879	NM_138995.5(MYO3B):c.2279T>C (p.Met760Thr)	MYO3B (M760T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401880	NM_138995.5(MYO3B):c.2986C>T (p.Arg996Cys)	MYO3B (R996C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397098	NM_138995.5(MYO3B):c.847T>G (p.Ser283Ala)	MYO3B (S283A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394576	NM_138995.5(MYO3B):c.3700G>A (p.Gly1234Arg)	MYO3B (G1234R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389801	NM_138995.5(MYO3B):c.1555T>C (p.Ser519Pro)	MYO3B (S519P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388796	NM_138995.5(MYO3B):c.3776G>A (p.Arg1259Gln)	LOC100130256, MYO3B (R1232Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387970	NM_138995.5(MYO3B):c.311T>A (p.Leu104Gln)	MYO3B (L104Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386973	NM_138995.5(MYO3B):c.3173G>A (p.Arg1058Gln)	MYO3B (R1058Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373313	NM_138995.5(MYO3B):c.2332C>T (p.Arg778Cys)	MYO3B (R778C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372191	NM_138995.5(MYO3B):c.379C>T (p.Arg127Trp)	MYO3B (R127W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361189	NM_138995.5(MYO3B):c.2200T>C (p.Phe734Leu)	MYO3B (F734L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360655	NM_138995.5(MYO3B):c.1009G>A (p.Glu337Lys)	MYO3B (E337K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358161	NM_138995.5(MYO3B):c.1168A>T (p.Ser390Cys)	MYO3B (S390C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354020	NM_138995.5(MYO3B):c.2581G>A (p.Val861Ile)	MYO3B (V861I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337035	NM_138995.5(MYO3B):c.2914A>G (p.Arg972Gly)	MYO3B (R972G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326103	NM_138995.5(MYO3B):c.704C>A (p.Pro235His)	MYO3B (P235H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322319	NM_138995.5(MYO3B):c.2409A>T (p.Gln803His)	MYO3B (Q803H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312547	NM_138995.5(MYO3B):c.2578G>A (p.Val860Met)	MYO3B (V860M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309729	NM_138995.5(MYO3B):c.343A>T (p.Thr115Ser)	MYO3B (T115S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285314	NM_138995.5(MYO3B):c.1441T>C (p.Ser481Pro)	MYO3B (S481P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285313	NM_138995.5(MYO3B):c.1256C>T (p.Ala419Val)	MYO3B (A419V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274902	NM_138995.5(MYO3B):c.3641C>T (p.Ser1214Leu)	MYO3B (S1214L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274537	NM_138995.5(MYO3B):c.1726G>C (p.Glu576Gln)	MYO3B (E576Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270030	NM_138995.5(MYO3B):c.2455T>C (p.Cys819Arg)	MYO3B (C819R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267689	NM_138995.5(MYO3B):c.2965C>T (p.Arg989Cys)	MYO3B (R989C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252151	NM_138995.5(MYO3B):c.3218G>C (p.Gly1073Ala)	MYO3B (G1073A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251783	NM_138995.5(MYO3B):c.973C>T (p.His325Tyr)	MYO3B (H325Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245402	NM_138995.5(MYO3B):c.2749A>G (p.Ile917Val)	MYO3B (I917V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240289	NM_138995.5(MYO3B):c.2575G>A (p.Asp859Asn)	MYO3B (D859N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239735	NM_138995.5(MYO3B):c.2128T>C (p.Cys710Arg)	MYO3B (C710R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237645	NM_138995.5(MYO3B):c.1844T>C (p.Ile615Thr)	MYO3B (I615T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234300	NM_138995.5(MYO3B):c.340G>T (p.Val114Phe)	MYO3B (V114F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229205	NM_138995.5(MYO3B):c.3443A>G (p.Gln1148Arg)	MYO3B (Q1121R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223380	NM_138995.5(MYO3B):c.3529C>A (p.Arg1177Ser)	MYO3B (R1150S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219191	NM_138995.5(MYO3B):c.541C>A (p.Leu181Ile)	MYO3B (L181I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216201	NM_138995.5(MYO3B):c.2966G>A (p.Arg989His)	MYO3B (R989H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204586	NM_138995.5(MYO3B):c.3960G>C (p.Glu1320Asp)	LOC100130256, MYO3B (E1293D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808787	GRCh37/hg19 2q31.1(chr2:171078637-171160209)x1	MYO3B	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1246117	NM_138995.5(MYO3B):c.585G>A (p.Pro195=)	MYO3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 786868	NM_138995.5(MYO3B):c.823A>G (p.Ile275Val)	MYO3B (I275V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785016	NM_138995.5(MYO3B):c.3590A>G (p.Gln1197Arg)	MYO3B (Q1170R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780855	NM_138995.5(MYO3B):c.527-3T>C	MYO3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717826	NM_138995.5(MYO3B):c.3637-8T>C	MYO3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 562482	GRCh37/hg19 2q31.1(chr2:171153453-171204137)x1	MYO3B	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 441142	NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser)	MYO3B (N267S)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 90