APLP1[gene] - ClinVar

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Items: 55

	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 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 2598174	NM_001024807.3(APLP1):c.41G>A (p.Arg14His)	APLP1 (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306709	NM_001024807.3(APLP1):c.170C>T (p.Ala57Val)	APLP1 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127853	NM_001024807.3(APLP1):c.190A>G (p.Thr64Ala)	APLP1 (T64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542833	NM_001024807.3(APLP1):c.202G>A (p.Asp68Asn)	APLP1 (D68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508241	NM_001024807.3(APLP1):c.245G>A (p.Arg82Gln)	APLP1 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218049	NM_001024807.3(APLP1):c.332C>G (p.Thr111Arg)	APLP1 (T111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235568	NM_001024807.3(APLP1):c.374G>A (p.Ser125Asn)	APLP1 (S125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346720	NM_001024807.3(APLP1):c.391C>A (p.Pro131Thr)	APLP1 (P131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127854	NM_001024807.3(APLP1):c.416G>A (p.Arg139His)	APLP1 (R139H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3306699	NM_001024807.3(APLP1):c.481C>G (p.Gln161Glu)	APLP1 (Q161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127855	NM_001024807.3(APLP1):c.623T>C (p.Val208Ala)	APLP1 (V208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127856	NM_001024807.3(APLP1):c.685C>T (p.Arg229Trp)	APLP1 (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400271	NM_001024807.3(APLP1):c.686G>A (p.Arg229Gln)	APLP1 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127857	NM_001024807.3(APLP1):c.694C>T (p.Pro232Ser)	APLP1 (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334671	NM_001024807.3(APLP1):c.698C>G (p.Pro233Arg)	APLP1 (P233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235229	NM_001024807.3(APLP1):c.709G>A (p.Val237Ile)	APLP1 (V237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127858	NM_001024807.3(APLP1):c.757G>T (p.Val253Leu)	APLP1 (V253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288617	NM_001024807.3(APLP1):c.787G>A (p.Ala263Thr)	APLP1 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217632	NM_001024807.3(APLP1):c.808G>A (p.Val270Ile)	APLP1 (V270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228320	NM_001024807.3(APLP1):c.908A>G (p.Glu303Gly)	APLP1 (E303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727453	NM_001024807.3(APLP1):c.948C>T (p.Asp316=)	APLP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3127859	NM_001024807.3(APLP1):c.988C>A (p.Arg330Ser)	APLP1 (R330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365824	NM_001024807.3(APLP1):c.1016C>A (p.Ser339Tyr)	APLP1 (S339Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511904	NM_001024807.3(APLP1):c.1036G>A (p.Asp346Asn)	APLP1 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212835	NM_001024807.3(APLP1):c.1097C>G (p.Ser366Cys)	APLP1 (S366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359476	NM_001024807.3(APLP1):c.1198C>A (p.Gln400Lys)	APLP1 (Q400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463124	NM_001024807.3(APLP1):c.1208C>T (p.Pro403Leu)	APLP1 (P403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306688	NM_001024807.3(APLP1):c.1253G>A (p.Arg418His)	APLP1 (R418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239260	NM_001024807.3(APLP1):c.1340T>C (p.Phe447Ser)	APLP1 (F447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548084	NM_001024807.3(APLP1):c.1433G>A (p.Arg478Gln)	APLP1 (R478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354470	NM_001024807.3(APLP1):c.1513G>A (p.Glu505Lys)	APLP1 (E505K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127850	NM_001024807.3(APLP1):c.1637A>G (p.Gln546Arg)	APLP1 (Q545R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306677	NM_001024807.3(APLP1):c.1718C>A (p.Pro573Gln)	APLP1 (P573Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235959	NM_001024807.3(APLP1):c.1792G>T (p.Val598Phe)	APLP1 (V597F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395572	NM_001024807.3(APLP1):c.1820A>G (p.Lys607Arg)	APLP1 (K607R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127851	NM_001024807.3(APLP1):c.1841G>C (p.Ser614Thr)	APLP1 (S613T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127852	NM_001024807.3(APLP1):c.1847G>A (p.Gly616Asp)	APLP1 (G616D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229845	NM_001024807.3(APLP1):c.1861G>A (p.Asp621Asn)	APLP1 (D620N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588977	NM_001024807.3(APLP1):c.1897G>C (p.Glu633Gln)	APLP1 (E632Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	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 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance

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Items: 55