ClinVar for Gene (Select 53349) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334580	NM_021260.4(ZFYVE1):c.1970C>T (p.Ala657Val)	ZFYVE1 (A643V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334579	NM_021260.4(ZFYVE1):c.131G>A (p.Arg44His)	ZFYVE1 (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334578	NM_021260.4(ZFYVE1):c.1217G>T (p.Arg406Leu)	ZFYVE1 (R406L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334577	NM_021260.4(ZFYVE1):c.2174G>A (p.Arg725Gln)	ZFYVE1 (R310Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CCNK, MIR376A1 +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	AREL1, ARF6 +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	ISCA2, TMEM30B +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)	GTF2A1, GZMB +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	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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
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 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48