NAPEPLD[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 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 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2371744	NM_001122838.3(NAPEPLD):c.1168G>A (p.Asp390Asn)	NAPEPLD (D311N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241354	NM_001122838.3(NAPEPLD):c.1144G>A (p.Glu382Lys)	NAPEPLD (E382K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357290	NM_001122838.3(NAPEPLD):c.1117G>C (p.Glu373Gln)	NAPEPLD (E294Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289690	NM_001122838.3(NAPEPLD):c.1016C>T (p.Ser339Phe)	NAPEPLD (S260F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313996	NM_001122838.3(NAPEPLD):c.993C>G (p.His331Gln)	NAPEPLD (H252Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493019	NM_001122838.3(NAPEPLD):c.942G>C (p.Arg314Ser)	NAPEPLD (R314S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236185	NM_001122838.3(NAPEPLD):c.899C>G (p.Pro300Arg)	NAPEPLD (P300R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405228	NM_001122838.3(NAPEPLD):c.896G>C (p.Gly299Ala)	NAPEPLD (G299A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175212	NM_001122838.3(NAPEPLD):c.844G>A (p.Ala282Thr)	NAPEPLD (A282T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458008	NM_001122838.3(NAPEPLD):c.814G>A (p.Val272Ile)	NAPEPLD (V272I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768191	NM_001122838.3(NAPEPLD):c.798A>G (p.Leu266=)	NAPEPLD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3175195	NM_001122838.3(NAPEPLD):c.764G>T (p.Cys255Phe)	NAPEPLD (C255F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267585	NM_001122838.3(NAPEPLD):c.703G>A (p.Glu235Lys)	NAPEPLD (E235K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175192	NM_001122838.3(NAPEPLD):c.655A>G (p.Met219Val)	NAPEPLD (M219V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525143	NM_001122838.3(NAPEPLD):c.638T>C (p.Leu213Ser)	NAPEPLD (L213S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3175187	NM_001122838.3(NAPEPLD):c.581A>G (p.Asn194Ser)	NAPEPLD (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175183	NM_001122838.3(NAPEPLD):c.563A>G (p.Tyr188Cys)	NAPEPLD (Y188C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346747	NM_001122838.3(NAPEPLD):c.414A>C (p.Glu138Asp)	NAPEPLD (E138D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479102	NM_001122838.3(NAPEPLD):c.407T>C (p.Met136Thr)	NAPEPLD (M136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289506	NM_001122838.3(NAPEPLD):c.401C>T (p.Thr134Met)	NAPEPLD (T134M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385133	NM_001122838.3(NAPEPLD):c.366A>C (p.Glu122Asp)	NAPEPLD (E122D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175167	NM_001122838.3(NAPEPLD):c.343C>T (p.Pro115Ser)	NAPEPLD (P115S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175161	NM_001122838.3(NAPEPLD):c.284G>C (p.Ser95Thr)	NAPEPLD (S95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175159	NM_001122838.3(NAPEPLD):c.203C>T (p.Pro68Leu)	NAPEPLD (P68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787861	NM_001122838.3(NAPEPLD):c.148C>T (p.Leu50=)	NAPEPLD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3175233	NM_001122838.3(NAPEPLD):c.94G>A (p.Gly32Arg)	NAPEPLD (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3175217	NM_001122838.3(NAPEPLD):c.86G>A (p.Arg29Gln)	NAPEPLD (R29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175200	NM_001122838.3(NAPEPLD):c.80C>T (p.Ser27Leu)	NAPEPLD (S27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234735	NM_001122838.3(NAPEPLD):c.44A>G (p.Gln15Arg)	NAPEPLD (Q15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175164	NM_001122838.3(NAPEPLD):c.31A>C (p.Met11Leu)	NAPEPLD (M11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
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 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	not provided	GUncertain significance
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 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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: 51