FAM149A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	KLKB1, LOC123493252 +26 more	Deletion	not provided	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 57915	GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3	CYP4V2, F11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 149571	GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4	CYP4V2, F11 +41 more	Copy number gain	See cases	GUncertain significance
Select item 152067	GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1	CYP4V2, F11 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155401	GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4	CYP4V2, FAM149A +10 more	Copy number gain	See cases	GLikely benign
Select item 223122	NC_000004.12:g.(?_186013132)_(186215992_?)dup	FAM149A, FLJ38576 +10 more	Duplication	Autism spectrum disorder	GUncertain significance
Select item 149040	GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1	CYP4V2, F11 +10 more	Copy number loss	See cases	GPathogenic
Select item 148762	GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1	CYP4V2, DBET +72 more	Copy number loss	See cases	GUncertain significance
Select item 2265651	NM_001395294.1(FAM149A):c.895A>T (p.Asn299Tyr)	FAM149A (N290Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363129	NM_001395294.1(FAM149A):c.982C>G (p.Leu328Val)	FAM149A (L319V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091878	NM_001395294.1(FAM149A):c.1033G>A (p.Ala345Thr)	FAM149A (A345T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467077	NM_001395294.1(FAM149A):c.1049C>T (p.Pro350Leu)	FAM149A (P341L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091879	NM_001395294.1(FAM149A):c.1077C>A (p.Asn359Lys)	FAM149A (N350K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388477	NM_001395294.1(FAM149A):c.1175C>T (p.Thr392Met)	FAM149A (T101M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250871	NM_001395294.1(FAM149A):c.1223T>C (p.Ile408Thr)	FAM149A (I117T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485011	NM_001395294.1(FAM149A):c.1250A>G (p.Lys417Arg)	FAM149A (K417R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386171	NM_001395294.1(FAM149A):c.1252G>C (p.Glu418Gln)	FAM149A (E127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091881	NM_001395294.1(FAM149A):c.1259A>T (p.Asp420Val)	FAM149A (D129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613430	NM_001395294.1(FAM149A):c.1292C>A (p.Pro431His)	FAM149A (P140H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655214	NM_001395294.1(FAM149A):c.1303T>A (p.Trp435Arg)	FAM149A (W144R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655215	NM_001395294.1(FAM149A):c.1307G>A (p.Arg436His)	FAM149A (R145H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3091882	NM_001395294.1(FAM149A):c.1325C>T (p.Pro442Leu)	FAM149A (P151L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091883	NM_001395294.1(FAM149A):c.1334C>T (p.Pro445Leu)	FAM149A (P436L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510557	NM_001395294.1(FAM149A):c.1336C>T (p.Arg446Cys)	FAM149A (R155C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091884	NM_001395294.1(FAM149A):c.1381G>A (p.Val461Ile)	FAM149A (V461I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277188	NM_001395294.1(FAM149A):c.1402C>T (p.Leu468Phe)	FAM149A (L177F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655216	NM_001395294.1(FAM149A):c.1474A>G (p.Lys492Glu)	FAM149A (K201E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2293039	NM_001395294.1(FAM149A):c.1478T>C (p.Val493Ala)	FAM149A (V484A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524258	NM_001395294.1(FAM149A):c.1522G>A (p.Ala508Thr)	FAM149A (A508T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091885	NM_001395294.1(FAM149A):c.1586G>A (p.Arg529His)	FAM149A (R520H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091886	NM_001395294.1(FAM149A):c.1627T>G (p.Tyr543Asp)	FAM149A (Y543D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529598	NM_001395294.1(FAM149A):c.1628A>G (p.Tyr543Cys)	FAM149A (Y252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358061	NM_001395294.1(FAM149A):c.1675C>T (p.Arg559Trp)	FAM149A (R268W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607695	NM_001395294.1(FAM149A):c.1685C>T (p.Ala562Val)	FAM149A (A553V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277186	NM_001395294.1(FAM149A):c.1693G>C (p.Ala565Pro)	FAM149A (A274P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366760	NM_001395294.1(FAM149A):c.1703C>T (p.Thr568Met)	FAM149A (T277M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521253	NM_001395294.1(FAM149A):c.1714A>G (p.Lys572Glu)	FAM149A (K563E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277185	NM_001395294.1(FAM149A):c.1750C>T (p.Leu584Phe)	FAM149A (L584F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270569	NM_001395294.1(FAM149A):c.1757C>T (p.Ser586Phe)	FAM149A (S295F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091887	NM_001395294.1(FAM149A):c.1759G>A (p.Ala587Thr)	FAM149A (A296T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471227	NM_001395294.1(FAM149A):c.1777C>T (p.Arg593Trp)	FAM149A (R302W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465079	NM_001395294.1(FAM149A):c.1778G>A (p.Arg593Gln)	FAM149A (R593Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348811	NM_001395294.1(FAM149A):c.1858T>C (p.Ser620Pro)	FAM149A (S611P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091889	NM_001395294.1(FAM149A):c.1866A>C (p.Arg622Ser)	FAM149A (R622S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091868	NM_001395294.1(FAM149A):c.1927G>A (p.Val643Met)	FAM149A (V643M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091869	NM_001395294.1(FAM149A):c.1934A>G (p.His645Arg)	FAM149A (H354R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304907	NM_001395294.1(FAM149A):c.1936A>C (p.Met646Leu)	FAM149A (M355L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253839	NM_001395294.1(FAM149A):c.1972T>A (p.Phe658Ile)	FAM149A (F367I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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