FASTKD1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +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	G6PC2, ABCB11 +33 more	Copy number loss	See cases	GUncertain significance
Select item 147950	GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	KLHL41, KLHL23 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2539212	NM_024622.6(FASTKD1):c.1502G>A (p.Arg501Gln)	FASTKD1 (R478Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2267055	NM_024622.6(FASTKD1):c.422C>T (p.Thr141Ile)	FASTKD1 (T141I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2278661	NM_024622.6(FASTKD1):c.314C>G (p.Ala105Gly)	FASTKD1 (A105G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385648	NM_024622.6(FASTKD1):c.272A>G (p.Tyr91Cys)	FASTKD1 (Y91C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2376364	NM_024622.6(FASTKD1):c.247A>C (p.Thr83Pro)	FASTKD1 (T83P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487728	NM_024622.6(FASTKD1):c.202G>A (p.Val68Met)	FASTKD1 (V68M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298615	NM_024622.6(FASTKD1):c.187C>T (p.Leu63Phe)	FASTKD1 (L63F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548421	NM_024622.6(FASTKD1):c.61A>G (p.Ile21Val)	FASTKD1 (I21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300894	NM_024622.6(FASTKD1):c.13C>A (p.Pro5Thr)	FASTKD1 (P5T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	ABCB11, B3GALT1 +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)	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 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

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Items: 55