NIFK[gene] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 3299733	NM_032390.5(NIFK):c.863G>A (p.Arg288Gln)	NIFK, NIFK-AS1 (R288Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200066	NM_032390.5(NIFK):c.769A>G (p.Lys257Glu)	NIFK, NIFK-AS1 (K257E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 719899	NM_032390.5(NIFK):c.741_742dup (p.Gln248fs)	NIFK, NIFK-AS1 (Q248fs)	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3299734	NM_032390.5(NIFK):c.734G>A (p.Arg245Gln)	NIFK, NIFK-AS1 (R245Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223379	NM_032390.5(NIFK):c.716C>T (p.Pro239Leu)	NIFK, NIFK-AS1 (P239L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2474227	NM_032390.5(NIFK):c.652T>G (p.Ser218Ala)	NIFK, NIFK-AS1 (S218A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200064	NM_032390.5(NIFK):c.632G>T (p.Arg211Leu)	NIFK, NIFK-AS1 (R211L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2333962	NM_032390.5(NIFK):c.632G>A (p.Arg211His)	NIFK, NIFK-AS1 (R211H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200063	NM_032390.5(NIFK):c.631C>T (p.Arg211Cys)	NIFK, NIFK-AS1 (R211C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3200062	NM_032390.5(NIFK):c.608C>T (p.Thr203Met)	NIFK, NIFK-AS1 (T203M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2624288	NM_032390.5(NIFK):c.560C>T (p.Ser187Phe)	NIFK (S187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200061	NM_032390.5(NIFK):c.481A>T (p.Met161Leu)	NIFK (M161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222358	NM_032390.5(NIFK):c.458G>A (p.Arg153Gln)	NIFK (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519524	NM_032390.5(NIFK):c.443G>A (p.Arg148Gln)	NIFK (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513896	NM_032390.5(NIFK):c.441A>T (p.Lys147Asn)	NIFK (K147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299736	NM_032390.5(NIFK):c.364C>T (p.Pro122Ser)	NIFK (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200060	NM_032390.5(NIFK):c.317T>C (p.Met106Thr)	NIFK (M106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299735	NM_032390.5(NIFK):c.251A>G (p.Asn84Ser)	NIFK (N84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510882	NM_032390.5(NIFK):c.176C>G (p.Thr59Ser)	NIFK (T59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207769	NM_032390.5(NIFK):c.63G>C (p.Glu21Asp)	LOC129934696, NIFK (E21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401012	NM_032390.5(NIFK):c.14C>T (p.Ser5Phe)	NIFK (S5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1808683	GRCh37/hg19 2q14.2-14.3(chr2:121241775-126487783)x1	CLASP1, CNTNAP5 +5 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526890	GRCh37/hg19 2q14.2-14.3(chr2:120715409-126676946)	CLASP1, CNTNAP5 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341988	GRCh37/hg19 2q14.2-14.3(chr2:120628484-127658188)x1	CNTNAP5, EPB41L5 +11 more	Copy number loss	not provided	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 688949	GRCh37/hg19 2q14.2-14.3(chr2:122144686-122591643)x1	CLASP1, NIFK +2 more	Copy number loss	not provided	GUncertain significance
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 562567	GRCh37/hg19 2q14.2-14.3(chr2:122177612-122488379)x3	CLASP1, RNU4ATAC +1 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	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

Search results

Items: 46