ClinVar for Gene (Select 154215) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200250	NM_001040214.3(NKAIN2):c.173G>A (p.Arg58Lys)	NKAIN2 (R57K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685214	GRCh37/hg19 6q22.31(chr6:123554219-125882578)x1	HDDC2, NKAIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2685040	GRCh37/hg19 6q22.31(chr6:124918580-125201001)x4	NKAIN2	Copy number gain	not provided	GUncertain significance
Select item 2609529	NM_001040214.3(NKAIN2):c.42T>G (p.Cys14Trp)	NKAIN2 (C14W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2552418	NM_001040214.3(NKAIN2):c.188C>A (p.Thr63Lys)	NKAIN2 (T63K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541153	NM_001040214.3(NKAIN2):c.133A>G (p.Ile45Val)	NKAIN2 (I44V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334102	NM_001040214.3(NKAIN2):c.13A>G (p.Ser5Gly)	NKAIN2 (S5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286386	NM_001040214.3(NKAIN2):c.472G>A (p.Ala158Thr)	NKAIN2 (A56T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249077	NM_001040214.3(NKAIN2):c.512G>C (p.Cys171Ser)	NKAIN2 (C170S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215747	NM_001040214.3(NKAIN2):c.547G>T (p.Gly183Cys)	NKAIN2 (G116C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808541	GRCh37/hg19 6q22.31(chr6:121646369-124675332)x3	CLVS2, FABP7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808069	GRCh37/hg19 6q22.31(chr6:123858348-125320485)x1	NKAIN2, RNF217 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 980782	GRCh37/hg19 6q22.31(chr6:124632709-124755323)x1	NKAIN2	Copy number loss	not provided	GUncertain significance
Select item 776152	NM_001040214.3(NKAIN2):c.105A>G (p.Ala35=)	NKAIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 744576	NM_001040214.3(NKAIN2):c.617+10T>C	NKAIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684480	Single allele	NKAIN2	Duplication	not provided	Gnot provided
Select item 563232	GRCh37/hg19 6q22.31(chr6:124691423-124984989)x3	NKAIN2	Copy number gain	not provided	GUncertain significance
Select item 563231	GRCh37/hg19 6q22.31(chr6:124496938-125189118)x3	NKAIN2	Copy number gain	not provided	GUncertain significance
Select item 563229	GRCh37/hg19 6q22.31(chr6:123509362-124332260)x3	NKAIN2, TRDN	Copy number gain	not provided	GUncertain significance
Select item 560093	Single allele	NKAIN2, TRDN	Duplication	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 446320	GRCh37/hg19 6q22.31(chr6:123477056-124324549)x3	NKAIN2, TRDN	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 395324	GRCh37/hg19 6q22.31(chr6:123539531-124324489)x4	NKAIN2, TRDN	Copy number gain	See cases	GUncertain significance
Select item 393891	GRCh37/hg19 6q22.31(chr6:124373571-124463314)x1	NKAIN2	Copy number loss	See cases	GUncertain significance
Select item 157026	NM_001040214.2(NKAIN2):c.55-187304_55-129556dup	NKAIN2	Duplication	Small for gestational age	Gnot provided
Select item 157025	NM_001040214.2(NKAIN2):c.55-199612_55-129556dup	NKAIN2	Duplication	Normal pregnancy	Gnot provided
Select item 155424	GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 155386	GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150767	GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 148694	GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GLikely benign
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 147877	GRCh38/hg38 6q22.31(chr6:123352392-123845516)x3	LOC129997096, LOC129997097 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58444	GRCh38/hg38 6q22.31(chr6:124116341-124499647)x1	NKAIN2	Copy number loss	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 33225	GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3	LOC129389631, LOC129389632 +8 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 53