FAAP24[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2628182	NM_152266.5(FAAP24):c.-13-42A>G	FAAP24	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3091533	NM_152266.5(FAAP24):c.17C>T (p.Pro6Leu)	FAAP24 (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043539	NM_152266.5(FAAP24):c.21T>C (p.Asp7=)	FAAP24	Single nucleotide variant (synonymous variant +1 more)	FAAP24-related disorder	GLikely benign
Select item 791355	NM_152266.5(FAAP24):c.29G>C (p.Gly10Ala)	FAAP24 (G10A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2238108	NM_152266.5(FAAP24):c.43C>A (p.Pro15Thr)	FAAP24 (P15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317670	NM_152266.5(FAAP24):c.65A>T (p.Asn22Ile)	FAAP24 (N22I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688491	NM_152266.5(FAAP24):c.106+17C>T	FAAP24	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2264051	NM_152266.5(FAAP24):c.283C>T (p.Arg95Trp)	FAAP24 (R95W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 714784	NM_152266.5(FAAP24):c.284G>A (p.Arg95Gln)	FAAP24 (R95Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1284909	NM_152266.5(FAAP24):c.312A>G (p.Leu104=)	FAAP24	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091535	NM_152266.5(FAAP24):c.316A>G (p.Lys106Glu)	FAAP24 (K11E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045404	NM_152266.5(FAAP24):c.330G>A (p.Leu110=)	FAAP24	Single nucleotide variant (synonymous variant)	FAAP24-related disorder	GLikely benign
Select item 2613253	NM_152266.5(FAAP24):c.355G>C (p.Val119Leu)	FAAP24 (V24L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784831	NM_152266.5(FAAP24):c.377C>T (p.Ser126Phe)	FAAP24 (S126F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2526969	NM_152266.5(FAAP24):c.392A>C (p.Gln131Pro)	FAAP24 (Q36P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043244	NM_152266.5(FAAP24):c.396+10G>A	FAAP24	Single nucleotide variant (intron variant)	FAAP24-related disorder	GLikely benign
Select item 2249744	NM_152266.5(FAAP24):c.416A>G (p.Glu139Gly)	FAAP24 (E139G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628125	NM_152266.5(FAAP24):c.417G>A (p.Glu139=)	FAAP24	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2352953	NM_152266.5(FAAP24):c.526C>T (p.Leu176Phe)	FAAP24 (L176F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277021	NM_152266.5(FAAP24):c.529C>G (p.Leu177Val)	FAAP24 (L177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091536	NM_152266.5(FAAP24):c.562A>G (p.Ser188Gly)	FAAP24 (S188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403033	NM_152266.5(FAAP24):c.567T>G (p.Asn189Lys)	FAAP24 (N189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277022	NM_152266.5(FAAP24):c.574A>G (p.Ile192Val)	FAAP24 (I192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628276	NM_152266.5(FAAP24):c.575T>C (p.Ile192Thr)	FAAP24 (I192T +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 714785	NM_152266.5(FAAP24):c.597C>T (p.Val199=)	FAAP24	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479578	NM_152266.5(FAAP24):c.598G>A (p.Gly200Arg)	FAAP24 (G105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299292	NM_152266.5(FAAP24):c.635C>T (p.Thr212Met)	FAAP24 (T117M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2628141	NM_152266.5(FAAP24):c.636G>A (p.Thr212=)	FAAP24	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2627899	NM_152266.5(FAAP24):c.*32T>C	FAAP24	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2427072	NC_000019.9:g.(?_33457246)_(33464488_?)del	CEP89, FAAP24	Deletion	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 46