ClinVar for Gene (Select 84807) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 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 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 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 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 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 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 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 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
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35