NFKBID[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	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 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 3299541	NM_139239.5(NFKBID):c.1340G>A (p.Arg447His)	NFKBID (R320H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299542	NM_139239.5(NFKBID):c.1292G>C (p.Arg431Pro)	NFKBID (R289P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542695	NM_139239.5(NFKBID):c.1282C>A (p.His428Asn)	NFKBID (H301N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198008	NM_139239.5(NFKBID):c.1279G>A (p.Val427Ile)	NFKBID (V427I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525634	NM_139239.5(NFKBID):c.1205A>C (p.Gln402Pro)	NFKBID (Q260P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973655	NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu)	NFKBID (P258L +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 3198002	NM_139239.5(NFKBID):c.1198C>G (p.Pro400Ala)	NFKBID (P258A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197999	NM_139239.5(NFKBID):c.1118G>A (p.Arg373Gln)	NFKBID (R383Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261833	NM_139239.5(NFKBID):c.1117C>T (p.Arg373Trp)	NFKBID (R246W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299540	NM_139239.5(NFKBID):c.932G>A (p.Arg311His)	NFKBID (R184H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 973654	NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu)	NFKBID (R184L +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 2310946	NM_139239.5(NFKBID):c.764C>T (p.Ala255Val)	NFKBID (A265V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359988	NM_139239.5(NFKBID):c.761A>G (p.Asn254Ser)	NFKBID (N112S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345688	NM_139239.5(NFKBID):c.656G>A (p.Arg219His)	NFKBID (R77H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603979	NM_139239.5(NFKBID):c.653G>A (p.Arg218Gln)	NFKBID (R91Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197974	NM_139239.5(NFKBID):c.631G>T (p.Ala211Ser)	NFKBID (A211S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197969	NM_139239.5(NFKBID):c.601C>T (p.Arg201Trp)	NFKBID (R74W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361278	NM_139239.5(NFKBID):c.595G>A (p.Ala199Thr)	NFKBID (A57T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392611	NM_139239.5(NFKBID):c.592T>A (p.Phe198Ile)	NFKBID (F71I +3 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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35