NAMPT[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 2355038	NM_005746.3(NAMPT):c.1424A>C (p.Glu475Ala)	NAMPT (E475A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719384	NM_005746.3(NAMPT):c.1366-8T>C	NAMPT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174533	NM_005746.3(NAMPT):c.1340A>G (p.Lys447Arg)	NAMPT (K447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298411	NM_005746.3(NAMPT):c.1113A>C (p.Lys371Asn)	NAMPT (K371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782706	NM_005746.3(NAMPT):c.1002T>C (p.Val334=)	NAMPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774661	NM_005746.3(NAMPT):c.999T>C (p.Pro333=)	NAMPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2487411	NM_005746.3(NAMPT):c.978G>T (p.Glu326Asp)	NAMPT (E326D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 3174547	NM_005746.3(NAMPT):c.913C>G (p.Gln305Glu)	NAMPT (Q305E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246862	NM_005746.3(NAMPT):c.865A>G (p.Lys289Glu)	NAMPT (K289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325344	NM_005746.3(NAMPT):c.802C>A (p.Gln268Lys)	NAMPT (Q268K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174543	NM_005746.3(NAMPT):c.707C>G (p.Pro236Arg)	NAMPT (P236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174539	NM_005746.3(NAMPT):c.281A>G (p.Asp94Gly)	NAMPT (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707981	NM_005746.3(NAMPT):c.201T>C (p.Asn67=)	NAMPT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2619670	NM_005746.3(NAMPT):c.95A>G (p.Lys32Arg)	NAMPT (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508857	NM_005746.3(NAMPT):c.22G>C (p.Glu8Gln)	NAMPT (E8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 36