NAGK[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2278194	NM_017567.4(NAGK):c.61C>G (p.Pro21Ala)	NAGK (P21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599909	NM_017567.6(NAGK):c.-27G>T	NAGK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173592	NM_017567.6(NAGK):c.5C>T (p.Ala2Val)	NAGK (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550343	NM_017567.6(NAGK):c.106A>G (p.Asn36Asp)	NAGK (N36D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488465	NM_017567.6(NAGK):c.191C>T (p.Pro64Leu)	NAGK (P13L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173608	NM_017567.6(NAGK):c.200C>T (p.Pro67Leu)	NAGK (P16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173617	NM_017567.6(NAGK):c.281G>A (p.Arg94Gln)	NAGK (R43Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173626	NM_017567.6(NAGK):c.290A>G (p.Tyr97Cys)	NAGK (Y46C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371753	NM_017567.6(NAGK):c.319G>A (p.Asp107Asn)	NAGK (D107N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547764	NM_017567.6(NAGK):c.325G>A (p.Ala109Thr)	NAGK (A109T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357265	NM_017567.6(NAGK):c.328G>A (p.Gly110Ser)	NAGK (G59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298381	NM_017567.6(NAGK):c.334A>G (p.Ile112Val)	NAGK (I61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298382	NM_017567.6(NAGK):c.370A>T (p.Ile124Leu)	NAGK (I124L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238136	NM_017567.6(NAGK):c.406C>G (p.Pro136Ala)	NAGK (P85A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290487	NM_017567.6(NAGK):c.419A>G (p.Glu140Gly)	NAGK (E89G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173656	NM_017567.6(NAGK):c.443A>G (p.His148Arg)	NAGK (H148R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405423	NM_017567.6(NAGK):c.458A>G (p.Glu153Gly)	NAGK (E102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224054	NM_017567.6(NAGK):c.478G>A (p.Ala160Thr)	NAGK (A109T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173664	NM_017567.6(NAGK):c.524A>C (p.Glu175Ala)	NAGK (E175A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398891	NM_017567.6(NAGK):c.527C>T (p.Ala176Val)	NAGK (A125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360379	NM_017567.6(NAGK):c.547T>C (p.Tyr183His)	NAGK (Y183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618475	NM_017567.6(NAGK):c.557A>G (p.Gln186Arg)	NAGK (Q186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454885	NM_017567.6(NAGK):c.596G>C (p.Gly199Ala)	NAGK (G148A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396359	NM_017567.6(NAGK):c.620A>G (p.Asp207Gly)	NAGK (D207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348905	NM_017567.6(NAGK):c.652C>T (p.Arg218Trp)	NAGK (R167W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651020	NM_017567.6(NAGK):c.654G>A (p.Arg218=)	NAGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385505	NM_017567.6(NAGK):c.694C>T (p.Arg232Cys)	NAGK (R232C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298383	NM_017567.6(NAGK):c.704T>G (p.Phe235Cys)	NAGK (F184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173702	NM_017567.6(NAGK):c.739G>A (p.Val247Ile)	NAGK (V196I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298384	NM_017567.6(NAGK):c.783G>C (p.Lys261Asn)	NAGK (K261N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405737	NM_017567.6(NAGK):c.854T>G (p.Leu285Arg)	NAGK (L285R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173570	NM_017567.6(NAGK):c.869G>A (p.Gly290Asp)	NAGK (G239D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406750	NM_017567.6(NAGK):c.879C>G (p.Ile293Met)	NAGK (I242M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254185	NM_017567.6(NAGK):c.892T>G (p.Phe298Val)	NAGK (F298V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507645	NM_017567.6(NAGK):c.928T>C (p.Ser310Pro)	NAGK (S259P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268539	NM_017567.6(NAGK):c.968T>G (p.Ile323Ser)	NAGK (I272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651021	NM_017567.6(NAGK):c.969C>T (p.Ile323=)	NAGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510357	NM_017567.6(NAGK):c.971G>C (p.Gly324Ala)	NAGK (G324A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	PCYOX1, PLEK +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 685892	GRCh37/hg19 2p13.3-13.2(chr2:71164124-71535431)x3	ANKRD53, ATP6V1B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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

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Items: 53