NENF[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 2459122	NM_013349.5(NENF):c.22C>T (p.Arg8Trp)	LOC129932466, NENF (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403360	NM_013349.5(NENF):c.31C>T (p.Arg11Trp)	LOC129932466, NENF (R11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235992	NM_013349.5(NENF):c.88C>T (p.Arg30Trp)	LOC129932466, NENF (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404665	NM_013349.5(NENF):c.113C>A (p.Ala38Asp)	LOC129932466, NENF (A38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328158	NM_013349.5(NENF):c.146A>C (p.Glu49Ala)	LOC129932466, NENF (E49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473158	NM_013349.5(NENF):c.251G>A (p.Arg84Gln)	NENF (R84Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327738	NM_013349.5(NENF):c.275C>T (p.Thr92Met)	NENF (T92M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554206	NM_013349.5(NENF):c.286T>A (p.Ser96Thr)	NENF (S96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612708	NM_013349.5(NENF):c.295G>A (p.Gly99Arg)	NENF (G99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299285	NM_013349.5(NENF):c.338A>G (p.Asp113Gly)	NENF (D113G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256540	NM_013349.5(NENF):c.395T>C (p.Val132Ala)	NENF (V132A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515151	NM_013349.5(NENF):c.433C>T (p.Arg145Trp)	NENF (R145W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594858	NM_013349.5(NENF):c.434G>A (p.Arg145Gln)	NENF (R145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565220	GRCh37/hg19 1q32.3(chr1:212323040-212681049)x3	NENF, PPP2R5A +1 more	Copy number gain	not provided	GLikely benign
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 34