KNOP1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 3116132	NM_001012991.3(KNOP1):c.1289G>A (p.Arg430Gln)	KNOP1 (R407Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403260	NM_001012991.3(KNOP1):c.1288C>T (p.Arg430Trp)	KNOP1 (R407W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290819	NM_001012991.3(KNOP1):c.1277G>T (p.Trp426Leu)	KNOP1 (W403L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282324	NM_001012991.3(KNOP1):c.1265G>A (p.Arg422Gln)	KNOP1 (R422Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289218	NM_001012991.3(KNOP1):c.1199C>T (p.Pro400Leu)	KNOP1 (P400L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598400	NM_001012991.3(KNOP1):c.1174C>T (p.Arg392Cys)	KNOP1 (R452C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116131	NM_001012991.3(KNOP1):c.1147T>C (p.Phe383Leu)	KNOP1 (F383L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519563	NM_001012991.3(KNOP1):c.1114C>G (p.Gln372Glu)	KNOP1 (Q349E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116138	NM_001012991.3(KNOP1):c.961A>G (p.Asn321Asp)	KNOP1 (N321D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116137	NM_001012991.3(KNOP1):c.949G>A (p.Glu317Lys)	KNOP1 (E317K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208293	NM_001012991.3(KNOP1):c.878A>G (p.Lys293Arg)	KNOP1 (K353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116136	NM_001012991.3(KNOP1):c.844G>A (p.Glu282Lys)	KNOP1 (E282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357579	NM_001012991.3(KNOP1):c.758C>T (p.Pro253Leu)	KNOP1 (P313L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398221	NM_001012991.3(KNOP1):c.703A>G (p.Met235Val)	KNOP1 (M235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252353	NM_001012991.3(KNOP1):c.635T>G (p.Val212Gly)	KNOP1 (V212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394099	NM_001012991.3(KNOP1):c.626A>G (p.Asn209Ser)	KNOP1 (N209S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456821	NM_001012991.3(KNOP1):c.599G>A (p.Arg200Gln)	KNOP1 (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116134	NM_001012991.3(KNOP1):c.567G>T (p.Lys189Asn)	KNOP1 (K249N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462204	NM_001012991.3(KNOP1):c.517G>A (p.Glu173Lys)	KNOP1 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456256	NM_001012991.3(KNOP1):c.461A>G (p.Glu154Gly)	KNOP1 (E154G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116133	NM_001012991.3(KNOP1):c.443T>C (p.Leu148Pro)	KNOP1 (L148P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262138	NM_001012991.3(KNOP1):c.424A>C (p.Thr142Pro)	KNOP1 (T202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280173	NM_001012991.3(KNOP1):c.403C>G (p.Pro135Ala)	KNOP1 (P195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289217	NM_001012991.3(KNOP1):c.280G>C (p.Glu94Gln)	KNOP1 (E154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454944	NM_001012991.3(KNOP1):c.260C>T (p.Thr87Met)	KNOP1 (T147M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289219	NM_001012991.3(KNOP1):c.131T>C (p.Leu44Ser)	KNOP1 (L104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232087	NM_001012991.3(KNOP1):c.127C>T (p.Pro43Ser)	KNOP1 (P103S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599853	NM_001012991.3(KNOP1):c.20A>G (p.Lys7Arg)	KNOP1 (K67R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493089	NM_001012991.3(KNOP1):c.18C>A (p.His6Gln)	KNOP1 (H66Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 47