ClinVar for Gene (Select 286183) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299853	NM_001304533.3(NKAIN3):c.506G>A (p.Ser169Asn)	NKAIN3 (S169N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299852	NM_001304533.3(NKAIN3):c.280G>T (p.Asp94Tyr)	NKAIN3 (D94Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299851	NM_001304533.3(NKAIN3):c.163A>C (p.Ile55Leu)	NKAIN3 (I55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299850	NM_001304533.3(NKAIN3):c.28C>T (p.Leu10Phe)	NKAIN3 (L10F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299849	NM_001304533.3(NKAIN3):c.397G>A (p.Val133Ile)	NKAIN3 (V133I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2612561	NM_001304533.3(NKAIN3):c.53T>C (p.Leu18Ser)	NKAIN3 (L18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580343	GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1	ASPH, CA8 +4 more	Copy number loss	CHARGE syndrome	GPathogenic
Select item 2382547	NR_130764.2(NKAIN3):n.804T>C	NKAIN3	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2328897	NM_001304533.3(NKAIN3):c.358C>A (p.Pro120Thr)	NKAIN3 (P120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248317	NR_130764.2(NKAIN3):n.773T>C	NKAIN3	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2237648	NM_001304533.3(NKAIN3):c.352G>A (p.Val118Met)	NKAIN3 (V118M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527435	GRCh37/hg19 8q12.3(chr8:63122839-64926318)	GGH, NKAIN3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1340240	GRCh37/hg19 8q12.3(chr8:63272801-63551061)x1	NKAIN3	Copy number loss	not provided	GUncertain significance
Select item 977789	GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)	TOX, CLVS1 +5 more	Copy number gain	duplication 8q12	GLikely pathogenic
Select item 687871	GRCh37/hg19 8q12.3(chr8:62544294-63317174)x3	ASPH, NKAIN3	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686238	GRCh37/hg19 8q12.3(chr8:63180384-63522266)x1	NKAIN3	Copy number loss	not provided	GUncertain significance
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149234	GRCh38/hg38 8q12.3(chr8:62598005-63822225)x1	GGH, LINC01289 +22 more	Copy number loss	See cases	GUncertain significance
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 144167	GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1	ASPH, BHLHE22 +79 more	Copy number loss	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42