ClinVar for Gene (Select 149428) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2607147	NM_138278.4(BNIPL):c.1051C>T (p.Leu351Phe)	BNIPL (L269F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602633	NM_138278.4(BNIPL):c.361C>A (p.Leu121Met)	BNIPL (L121M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596880	NM_138278.4(BNIPL):c.85A>G (p.Arg29Gly)	BNIPL (R29G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2527102	NM_138278.4(BNIPL):c.277C>T (p.Arg93Trp)	BNIPL (R11W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512097	NM_138278.4(BNIPL):c.491G>A (p.Arg164Gln)	BNIPL (R164Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2488183	NM_138278.4(BNIPL):c.526C>T (p.His176Tyr)	BNIPL (H176Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392716	NM_138278.4(BNIPL):c.251G>A (p.Arg84His)	BNIPL (R2H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391591	NM_138278.4(BNIPL):c.331G>A (p.Ala111Thr)	BNIPL (A111T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379013	NM_138278.4(BNIPL):c.850C>T (p.Arg284Trp)	BNIPL (R284W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378600	NM_138278.4(BNIPL):c.565C>T (p.Arg189Cys)	BNIPL (R107C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367586	NM_138278.4(BNIPL):c.368T>C (p.Ile123Thr)	BNIPL (I123T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322128	NM_138278.4(BNIPL):c.529C>T (p.His177Tyr)	BNIPL (H95Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294220	NM_138278.4(BNIPL):c.524G>A (p.Gly175Glu)	BNIPL (G175E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276307	NM_138278.4(BNIPL):c.1061C>T (p.Ser354Leu)	BNIPL (S354L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CREB3L4, CRNN +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 813322	GRCh37/hg19 1q21.3(chr1:150990288-151016203)	BNIPL, PRUNE1	Copy number loss	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	GABPB2, LOC112577493 +59 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 27