ClinVar for Gene (Select 333) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3306699	NM_001024807.3(APLP1):c.481C>G (p.Gln161Glu)	APLP1 (Q161E)	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 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 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
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 3127858	NM_001024807.3(APLP1):c.757G>T (p.Val253Leu)	APLP1 (V253L)	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 3127856	NM_001024807.3(APLP1):c.685C>T (p.Arg229Trp)	APLP1 (R229W)	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 3127854	NM_001024807.3(APLP1):c.416G>A (p.Arg139His)	APLP1 (R139H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 2598174	NM_001024807.3(APLP1):c.41G>A (p.Arg14His)	APLP1 (R14H)	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 2548084	NM_001024807.3(APLP1):c.1433G>A (p.Arg478Gln)	APLP1 (R478Q)	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 2511904	NM_001024807.3(APLP1):c.1036G>A (p.Asp346Asn)	APLP1 (D346N)	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 2463124	NM_001024807.3(APLP1):c.1208C>T (p.Pro403Leu)	APLP1 (P403L)	Single nucleotide variant (missense variant)	not specified	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 2400271	NM_001024807.3(APLP1):c.686G>A (p.Arg229Gln)	APLP1 (R229Q)	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 2365824	NM_001024807.3(APLP1):c.1016C>A (p.Ser339Tyr)	APLP1 (S339Y)	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 2354470	NM_001024807.3(APLP1):c.1513G>A (p.Glu505Lys)	APLP1 (E505K)	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 2334671	NM_001024807.3(APLP1):c.698C>G (p.Pro233Arg)	APLP1 (P233R)	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 2239260	NM_001024807.3(APLP1):c.1340T>C (p.Phe447Ser)	APLP1 (F447S)	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 2235568	NM_001024807.3(APLP1):c.374G>A (p.Ser125Asn)	APLP1 (S125N)	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 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 2228320	NM_001024807.3(APLP1):c.908A>G (p.Glu303Gly)	APLP1 (E303G)	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 2217632	NM_001024807.3(APLP1):c.808G>A (p.Val270Ile)	APLP1 (V270I)	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 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 727453	NM_001024807.3(APLP1):c.948C>T (p.Asp316=)	APLP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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: 55