ClinVar for Gene (Select 145483) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277213	NM_152445.3(FAM161B):c.633G>C (p.Glu211Asp)	FAM161B (E211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277212	NM_152445.2(FAM161B):c.55T>A (p.Trp19Arg)	COQ6, FAM161B (W19R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277211	NM_152445.3(FAM161B):c.1850G>T (p.Gly617Val)	FAM161B (G617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277210	NM_152445.3(FAM161B):c.383C>T (p.Ser128Phe)	FAM161B (S128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277209	NM_152445.3(FAM161B):c.1225C>T (p.Arg409Cys)	FAM161B (R409C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3244015	NC_000014.8:g.(?_74111743)_(74551097_?)del	ALDH6A1, BBOF1 +8 more	Deletion	Primary ciliary dyskinesia 16	GPathogenic
Select item 3091945	NM_152445.3(FAM161B):c.649C>T (p.Arg217Trp)	FAM161B (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091944	NM_152445.3(FAM161B):c.617G>A (p.Gly206Asp)	FAM161B (G206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091941	NM_152445.3(FAM161B):c.1595A>G (p.Tyr532Cys)	FAM161B (Y532C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091940	NM_152445.3(FAM161B):c.1510A>G (p.Met504Val)	FAM161B (M504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091939	NM_152445.3(FAM161B):c.1313G>A (p.Arg438His)	FAM161B (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091938	NM_152445.3(FAM161B):c.1190G>A (p.Arg397His)	FAM161B (R397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091937	NM_152445.3(FAM161B):c.1160C>T (p.Ala387Val)	FAM161B (A387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091936	NM_152445.2(FAM161B):c.103G>C (p.Gly35Arg)	COQ6, FAM161B (G35R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684735	GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3	ALDH6A1, BBOF1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2623698	NM_152445.3(FAM161B):c.1436G>A (p.Ser479Asn)	FAM161B (S479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619567	NM_152445.3(FAM161B):c.1913A>C (p.Gln638Pro)	FAM161B (Q638P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618962	NM_152445.3(FAM161B):c.505A>G (p.Ile169Val)	FAM161B (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615957	NM_152445.3(FAM161B):c.1867G>A (p.Glu623Lys)	FAM161B (E623K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615761	NM_152445.3(FAM161B):c.787G>A (p.Glu263Lys)	FAM161B (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589998	NM_152445.3(FAM161B):c.232G>T (p.Gly78Trp)	FAM161B (G78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568769	NM_152445.3(FAM161B):c.1033C>T (p.Arg345Cys)	FAM161B (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551934	NM_152445.2(FAM161B):c.121C>T (p.His41Tyr)	COQ6, FAM161B (H41Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547742	NM_152445.3(FAM161B):c.1820C>T (p.Thr607Ile)	FAM161B (T607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540104	NM_152445.3(FAM161B):c.838A>G (p.Thr280Ala)	FAM161B (T280A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539362	NM_152445.3(FAM161B):c.1361A>C (p.His454Pro)	FAM161B (H454P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531181	NM_152445.3(FAM161B):c.326A>G (p.Gln109Arg)	FAM161B (Q109R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519933	NM_152445.3(FAM161B):c.518G>A (p.Arg173Gln)	FAM161B (R173Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513112	NM_152445.3(FAM161B):c.1806G>T (p.Arg602Ser)	FAM161B (R602S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493397	NM_152445.3(FAM161B):c.1A>G (p.Met1Val)	COQ6, FAM161B (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481693	NM_152445.3(FAM161B):c.61C>T (p.Pro21Ser)	FAM161B (P21S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458299	NM_152445.3(FAM161B):c.34G>A (p.Gly12Ser)	COQ6, FAM161B (G12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427583	NC_000014.8:g.(?_74417036)_(74417218_?)dup	COQ6, FAM161B	Duplication	not provided	GUncertain significance
Select item 2395094	NM_152445.3(FAM161B):c.1564C>T (p.Arg522Trp)	FAM161B (R522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391023	NM_152445.3(FAM161B):c.256C>T (p.Leu86Phe)	FAM161B (L86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388993	NM_152445.3(FAM161B):c.602G>A (p.Arg201Gln)	FAM161B (R201Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379308	NM_152445.3(FAM161B):c.1930G>C (p.Val644Leu)	FAM161B (V644L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374766	NM_152445.3(FAM161B):c.-36C>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2373880	NM_152445.3(FAM161B):c.86A>G (p.Glu29Gly)	FAM161B (E29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356380	NM_152445.3(FAM161B):c.1802C>G (p.Pro601Arg)	FAM161B (P601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354415	NM_152445.3(FAM161B):c.58T>C (p.Phe20Leu)	FAM161B (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340536	NM_152445.3(FAM161B):c.1642T>A (p.Tyr548Asn)	FAM161B (Y548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297168	NM_152445.3(FAM161B):c.1003T>G (p.Ser335Ala)	FAM161B (S335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294274	NM_152445.3(FAM161B):c.601C>T (p.Arg201Trp)	FAM161B (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287487	NM_152445.3(FAM161B):c.-47G>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2281028	NM_152445.3(FAM161B):c.395G>A (p.Cys132Tyr)	FAM161B (C132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272615	NM_152445.3(FAM161B):c.1190G>T (p.Arg397Leu)	FAM161B (R397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264669	NM_152445.3(FAM161B):c.1622A>C (p.Gln541Pro)	FAM161B (Q541P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262297	NM_152445.3(FAM161B):c.698T>G (p.Ile233Ser)	FAM161B (I233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248747	NM_152445.3(FAM161B):c.1099C>T (p.Arg367Trp)	FAM161B (R367W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244563	NM_021188.3(ZNF410):c.1295G>T (p.Arg432Leu)	FAM161B, ZNF410 (R359L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239665	NM_152445.3(FAM161B):c.1100G>A (p.Arg367Gln)	FAM161B (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235249	NM_152445.3(FAM161B):c.1216G>A (p.Ala406Thr)	FAM161B (A406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222467	NM_152445.3(FAM161B):c.288C>G (p.Asn96Lys)	FAM161B (N96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222316	NM_152445.3(FAM161B):c.1586C>T (p.Ala529Val)	FAM161B (A529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222202	NM_152445.3(FAM161B):c.568G>A (p.Gly190Ser)	FAM161B (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220231	NM_152445.3(FAM161B):c.676T>C (p.Tyr226His)	FAM161B (Y226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213531	NM_021188.3(ZNF410):c.1295G>A (p.Arg432His)	FAM161B, ZNF410 (R236H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1281820	NC_000014.9:g.73949705_73949709del	COQ6, FAM161B	Deletion (intron variant)	not provided	GBenign
Select item 1256708	NC_000014.9:g.73949897T>C	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234053	NM_182480.3(COQ6):c.-98C>G	COQ6, FAM161B (G11A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1227783	NM_182480.3(COQ6):c.-131T>C	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1212854	NC_000014.9:g.73949922G>A	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189592	NC_000014.9:g.73949900G>C	COQ6, FAM161B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182326	NM_182480.3(COQ6):c.-150T>G	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	ABCD4, ALDH6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 517856	NM_182480.3(COQ6):c.-36_-25dup	COQ6, FAM161B	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	COQ6, ENTPD5 +23 more	Copy number gain	See cases	GUncertain significance
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 136984	NM_182476.2(COQ6):c.-254T>G	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 84