ClinVar for Gene (Select 53349) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193361	NM_021260.4(ZFYVE1):c.947T>C (p.Ile316Thr)	ZFYVE1 (I316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193360	NM_021260.4(ZFYVE1):c.248G>C (p.Gly83Ala)	ZFYVE1 (G83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193359	NM_021260.4(ZFYVE1):c.232A>C (p.Ser78Arg)	ZFYVE1 (S78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193358	NM_021260.4(ZFYVE1):c.1771G>A (p.Ala591Thr)	ZFYVE1 (A176T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193357	NM_021260.4(ZFYVE1):c.170A>G (p.Asn57Ser)	ZFYVE1 (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193355	NM_021260.4(ZFYVE1):c.1630C>T (p.Pro544Ser)	ZFYVE1 (P129S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193354	NM_021260.4(ZFYVE1):c.136G>A (p.Glu46Lys)	ZFYVE1 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684734	GRCh37/hg19 14q24.2(chr14:73285307-73708676)x3	DCAF4, DPF3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2620816	NM_021260.4(ZFYVE1):c.335A>G (p.Asn112Ser)	ZFYVE1 (N112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607737	NM_021260.4(ZFYVE1):c.17C>T (p.Ser6Phe)	ZFYVE1 (S6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598349	NM_021260.4(ZFYVE1):c.151C>T (p.Arg51Trp)	ZFYVE1 (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559290	NM_021260.4(ZFYVE1):c.152G>A (p.Arg51Gln)	ZFYVE1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543070	NM_021260.4(ZFYVE1):c.1230G>C (p.Glu410Asp)	ZFYVE1 (E410D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485518	NM_021260.4(ZFYVE1):c.1661A>G (p.Asn554Ser)	ZFYVE1 (N139S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401798	NM_021260.4(ZFYVE1):c.28A>G (p.Lys10Glu)	ZFYVE1 (K10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396547	NM_021260.4(ZFYVE1):c.1045C>T (p.Arg349Cys)	ZFYVE1 (R349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395892	NM_021260.4(ZFYVE1):c.1034G>A (p.Arg345Gln)	ZFYVE1 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385851	NM_021260.4(ZFYVE1):c.67G>A (p.Ala23Thr)	ZFYVE1 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364471	NM_021260.4(ZFYVE1):c.1420G>A (p.Ala474Thr)	ZFYVE1 (A59T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304779	NM_021260.4(ZFYVE1):c.703G>A (p.Asp235Asn)	ZFYVE1 (D235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298932	NM_021260.4(ZFYVE1):c.2180A>T (p.Glu727Val)	ZFYVE1 (E312V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293512	NM_021260.4(ZFYVE1):c.1373G>A (p.Arg458His)	ZFYVE1 (R458H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293015	NM_021260.4(ZFYVE1):c.482A>G (p.Gln161Arg)	ZFYVE1 (Q161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260730	NM_021260.4(ZFYVE1):c.1246A>G (p.Met416Val)	ZFYVE1 (M416V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253061	NM_021260.4(ZFYVE1):c.982G>A (p.Gly328Ser)	ZFYVE1 (G328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807977	GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3	DCAF4, DPF3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340204	GRCh37/hg19 14q24.2(chr14:73336295-73666940)x3	DCAF4, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980610	GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3	PSEN1, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 769864	NM_021260.4(ZFYVE1):c.484-4G>T	ZFYVE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769400	NM_021260.4(ZFYVE1):c.465C>T (p.Asp155=)	ZFYVE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721846	NM_021260.4(ZFYVE1):c.591C>A (p.Leu197=)	ZFYVE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564112	GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3	DPF3, PSEN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 44