ClinVar for Gene (Select 200558) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306606	NM_173545.3(APLF):c.1334T>G (p.Val445Gly)	APLF (V445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306597	NM_173545.3(APLF):c.1403T>C (p.Phe468Ser)	APLF (F468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306587	NM_173545.3(APLF):c.25C>T (p.Pro9Ser)	APLF (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306577	NM_173545.3(APLF):c.55G>A (p.Ala19Thr)	APLF (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127837	NM_173545.3(APLF):c.997G>C (p.Gly333Arg)	APLF (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127836	NM_173545.3(APLF):c.754G>A (p.Gly252Arg)	APLF (G252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127835	NM_173545.3(APLF):c.640A>G (p.Ser214Gly)	APLF (S214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127834	NM_173545.3(APLF):c.505A>G (p.Asn169Asp)	APLF (N169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127833	NM_173545.3(APLF):c.446G>T (p.Ser149Ile)	APLF (S149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127832	NM_173545.3(APLF):c.382A>T (p.Thr128Ser)	APLF (T128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127831	NM_173545.3(APLF):c.296G>A (p.Arg99His)	APLF (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127830	NM_173545.3(APLF):c.295C>T (p.Arg99Cys)	APLF (R99C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127829	NM_173545.3(APLF):c.244T>C (p.Tyr82His)	APLF (Y82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127828	NM_173545.3(APLF):c.200C>T (p.Ser67Leu)	APLF (S67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127827	NM_173545.3(APLF):c.160A>G (p.Ile54Val)	APLF (I54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127826	NM_173545.3(APLF):c.1228G>A (p.Val410Met)	APLF (V410M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2553566	NM_173545.3(APLF):c.890C>T (p.Pro297Leu)	APLF (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528590	NM_173545.3(APLF):c.894A>G (p.Ile298Met)	APLF (I298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525155	NM_173545.3(APLF):c.400A>T (p.Ile134Phe)	APLF (I134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2487038	NM_173545.3(APLF):c.1040C>T (p.Ser347Phe)	APLF (S347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485898	NM_173545.3(APLF):c.75C>G (p.Ile25Met)	APLF (I25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455715	NM_173545.3(APLF):c.578A>G (p.Glu193Gly)	APLF (E193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344639	NM_173545.3(APLF):c.545G>A (p.Arg182Lys)	APLF (R182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323572	NM_173545.3(APLF):c.755G>A (p.Gly252Glu)	APLF (G252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316552	NM_173545.3(APLF):c.439G>A (p.Glu147Lys)	APLF (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311376	NM_173545.3(APLF):c.598C>G (p.Leu200Val)	APLF (L200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309781	NM_173545.3(APLF):c.1274C>T (p.Pro425Leu)	APLF (P425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285637	NM_173545.3(APLF):c.221C>T (p.Pro74Leu)	APLF (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279582	NM_173545.3(APLF):c.1016A>G (p.Glu339Gly)	APLF (E339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267185	NM_173545.3(APLF):c.1279T>C (p.Cys427Arg)	APLF (C427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256368	NM_173545.3(APLF):c.29G>T (p.Arg10Leu)	APLF (R10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229423	NM_173545.3(APLF):c.1228G>C (p.Val410Leu)	APLF (V410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228894	NM_173545.3(APLF):c.1349A>G (p.Asp450Gly)	APLF (D450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207150	NM_173545.3(APLF):c.524A>G (p.Gln175Arg)	APLF (Q175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1341291	GRCh37/hg19 2p13.3(chr2:68791921-68938872)x1	APLF, PROKR1	Copy number loss	not provided	GUncertain significance
Select item 980979	GRCh37/hg19 2p14-13.3(chr2:68559849-68869517)x1	APLF, FBXO48 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814273	GRCh37/hg19 2p13.3(chr2:68687774-68748838)x1	APLF, FBXO48	Copy number loss	not provided	GUncertain significance
Select item 814272	GRCh37/hg19 2p13.3(chr2:68652771-68957105)x1	FBXO48, APLF +1 more	Copy number loss	not provided	GUncertain significance
Select item 625545	GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	ANTXR1, APLF +15 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 394736	GRCh37/hg19 2p13.3(chr2:68690766-68717308)x1	APLF, FBXO48	Copy number loss	See cases	GLikely benign
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 51