FASTKD1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 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 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	CFAP210, BBS5 +28 more	Copy number loss	See cases	GUncertain significance
Select item 2589155	NM_024622.6(FASTKD1):c.2533T>C (p.Ser845Pro)	FASTKD1 (S802P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336013	NM_024622.6(FASTKD1):c.2494A>G (p.Met832Val)	FASTKD1 (M832V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092971	NM_024622.6(FASTKD1):c.2441A>G (p.Gln814Arg)	FASTKD1 (Q771R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708750	NM_024622.6(FASTKD1):c.2406dup (p.Arg803fs)	FASTKD1 (R780fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 2309210	NM_024622.6(FASTKD1):c.2342T>G (p.Phe781Cys)	FASTKD1 (F715C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092970	NM_024622.6(FASTKD1):c.2325A>C (p.Glu775Asp)	FASTKD1 (E732D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773846	NM_024622.6(FASTKD1):c.2303C>G (p.Ser768Ter)	FASTKD1 (S702* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2365497	NM_024622.6(FASTKD1):c.2249C>T (p.Ala750Val)	FASTKD1 (A707V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516234	NM_024622.6(FASTKD1):c.2240A>G (p.His747Arg)	FASTKD1 (H724R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 548952	NM_024622.6(FASTKD1):c.2230T>A (p.Tyr744Asn)	FASTKD1 (Y744N +3 more)	Single nucleotide variant (missense variant +1 more)	Glaucoma 1, open angle, B	GPathogenic
Select item 2358763	NM_024622.6(FASTKD1):c.2228C>T (p.Pro743Leu)	FASTKD1 (P677L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359043	NM_024622.6(FASTKD1):c.2168C>T (p.Thr723Met)	FASTKD1 (T700M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399484	NM_024622.6(FASTKD1):c.2096C>T (p.Thr699Ile)	FASTKD1 (T633I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459576	NM_024622.6(FASTKD1):c.2089G>A (p.Asp697Asn)	FASTKD1 (D631N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2549699	NM_024622.6(FASTKD1):c.2051G>A (p.Arg684His)	FASTKD1 (R661H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365565	NM_024622.6(FASTKD1):c.1958C>T (p.Ser653Phe)	FASTKD1 (S653F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246001	NM_024622.6(FASTKD1):c.1791C>G (p.Cys597Trp)	FASTKD1 (C574W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473284	NM_024622.6(FASTKD1):c.1730T>C (p.Ile577Thr)	FASTKD1 (I554T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391320	NM_024622.6(FASTKD1):c.1590T>A (p.Asp530Glu)	FASTKD1 (D530E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092966	NM_024622.6(FASTKD1):c.1564G>A (p.Ala522Thr)	FASTKD1 (A499T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539212	NM_024622.6(FASTKD1):c.1502G>A (p.Arg501Gln)	FASTKD1 (R478Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092965	NM_024622.6(FASTKD1):c.1477C>T (p.His493Tyr)	FASTKD1 (H470Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277747	NM_024622.6(FASTKD1):c.1425A>T (p.Lys475Asn)	FASTKD1 (K452N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092964	NM_024622.6(FASTKD1):c.1313G>A (p.Arg438Gln)	FASTKD1 (R415Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092963	NM_024622.6(FASTKD1):c.1270T>C (p.Ser424Pro)	FASTKD1 (S424P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463973	NM_024622.6(FASTKD1):c.1262G>A (p.Arg421His)	FASTKD1 (R398H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092962	NM_024622.6(FASTKD1):c.1249T>C (p.Ser417Pro)	FASTKD1 (S394P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387987	NM_024622.6(FASTKD1):c.1178A>C (p.Lys393Thr)	FASTKD1 (K393T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600676	NM_024622.6(FASTKD1):c.1160T>C (p.Phe387Ser)	FASTKD1 (F387S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092961	NM_024622.6(FASTKD1):c.1144A>C (p.Thr382Pro)	FASTKD1 (T359P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277748	NM_024622.6(FASTKD1):c.1094T>G (p.Val365Gly)	FASTKD1 (V342G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092960	NM_024622.6(FASTKD1):c.1053G>A (p.Met351Ile)	FASTKD1 (M328I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092959	NM_024622.6(FASTKD1):c.1037G>A (p.Gly346Glu)	FASTKD1 (G346E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310536	NM_024622.6(FASTKD1):c.1024C>G (p.Leu342Val)	FASTKD1 (L319V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349139	NM_024622.6(FASTKD1):c.1015G>A (p.Glu339Lys)	FASTKD1 (E316K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479094	NM_024622.6(FASTKD1):c.962A>G (p.Glu321Gly)	FASTKD1 (E321G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355091	NM_024622.6(FASTKD1):c.815T>A (p.Leu272His)	FASTKD1 (L249H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241536	NM_024622.6(FASTKD1):c.721G>T (p.Val241Phe)	FASTKD1 (V218F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092975	NM_024622.6(FASTKD1):c.667A>G (p.Ile223Val)	FASTKD1 (I200V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092974	NM_024622.6(FASTKD1):c.605C>T (p.Ser202Phe)	FASTKD1 (S202F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595648	NM_024622.6(FASTKD1):c.598A>G (p.Ile200Val)	FASTKD1 (I177V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285295	NM_024622.6(FASTKD1):c.554A>C (p.Glu185Ala)	FASTKD1 (E162A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267055	NM_024622.6(FASTKD1):c.422C>T (p.Thr141Ile)	FASTKD1 (T141I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278661	NM_024622.6(FASTKD1):c.314C>G (p.Ala105Gly)	FASTKD1 (A105G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385648	NM_024622.6(FASTKD1):c.272A>G (p.Tyr91Cys)	FASTKD1 (Y91C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376364	NM_024622.6(FASTKD1):c.247A>C (p.Thr83Pro)	FASTKD1 (T83P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487728	NM_024622.6(FASTKD1):c.202G>A (p.Val68Met)	FASTKD1 (V68M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092968	NM_024622.6(FASTKD1):c.190T>G (p.Ser64Ala)	FASTKD1 (S64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298615	NM_024622.6(FASTKD1):c.187C>T (p.Leu63Phe)	FASTKD1 (L63F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092967	NM_024622.6(FASTKD1):c.182C>G (p.Ala61Gly)	FASTKD1 (A61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548421	NM_024622.6(FASTKD1):c.61A>G (p.Ile21Val)	FASTKD1 (I21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092972	NM_024622.6(FASTKD1):c.49C>T (p.Arg17Cys)	FASTKD1 (R17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092969	NM_024622.6(FASTKD1):c.21C>A (p.Phe7Leu)	FASTKD1 (F7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300894	NM_024622.6(FASTKD1):c.13C>A (p.Pro5Thr)	FASTKD1 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
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 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 443206	GRCh37/hg19 2q31.1(chr2:170370499-170424720)x4	FASTKD1, KLHL41	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
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 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73