ClinVar for Gene (Select 29937) - ClinVar

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

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +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	CAPN9, CATSPERE +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)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 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 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 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: 33