9115[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58248	GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1	ABAT, CARHSP1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 660704	NC_000016.9:g.(?_8851594)_(8941702_?)dup	LOC130058393, PMM2 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 57446	GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1	ABAT, CARHSP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 661750	NC_000016.10:g.(?_8779459)_(8847845_?)del	ABAT, LOC130058390 +5 more	Deletion	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 1336869	NM_000303.2(PMM2):c.-456T>C	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337239	NM_000303.2(PMM2):c.-401T>C	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1336657	NM_000303.2(PMM2):c.-338C>T	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1258116	NC_000016.10:g.8797584C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212443	NM_000303.2(PMM2):c.-298C>T	PMM2, TMEM186	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1326750	NM_000303.2(PMM2):c.-291C>A	PMM2, TMEM186	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 702357	NM_015421.4(TMEM186):c.1A>G (p.Met1Val)	PMM2, TMEM186 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 656718	NC_000016.10:g.8797716G>T	PMM2	Single nucleotide variant	PMM2-congenital disorder of glycosylation +1 more	GPathogenic
Select item 3032872	NC_000016.10:g.8797723G>A	PMM2	Single nucleotide variant	PMM2-related disorder	GLikely benign
Select item 1336083	NM_000303.2(PMM2):c.-144G>A	PMM2	Single nucleotide variant	not specified	GUncertain significance
Select item 321209	NM_000303.2(PMM2):c.-70G>A	PMM2	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 515627	NM_000303.3(PMM2):c.-35A>T	PMM2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 321210	NM_000303.3(PMM2):c.-34C>T	PMM2	Single nucleotide variant (5 prime UTR variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1336853	NM_000303.3(PMM2):c.-19G>A	PMM2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 386292	NM_000303.3(PMM2):c.-15C>G	PMM2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 639371	NC_000016.10:g.(?_8797873)_(8813116_?)del	LOC130058391, PMM2	Deletion	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 1311376	NM_000303.3(PMM2):c.-1dup (p.Met1fs)	PMM2 (M1fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 188965	NM_000303.3(PMM2):c.1A>G (p.Met1Val)	PMM2 (M1V)	Single nucleotide variant (missense variant +1 more)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1398670	NM_000303.3(PMM2):c.4G>A (p.Ala2Thr)	PMM2 (A2T)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2430513	NM_000303.3(PMM2):c.8C>T (p.Ala3Val)	PMM2 (A3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537964	NM_000303.3(PMM2):c.9G>C (p.Ala3=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2041195	NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)	PMM2	Deletion (inframe_deletion)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 1393525	NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	PMM2 (P6fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 863725	NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)	PMM2 (G5D)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2806828	NM_000303.3(PMM2):c.15C>T (p.Gly5=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2023250	NM_000303.3(PMM2):c.15C>G (p.Gly5=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 747684	NM_000303.3(PMM2):c.15C>A (p.Gly5=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2753741	NM_000303.3(PMM2):c.18A>G (p.Pro6=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1660978	NM_000303.3(PMM2):c.21G>C (p.Ala7=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 739025	NM_000303.3(PMM2):c.24C>G (p.Leu8=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 188744	NM_000303.3(PMM2):c.24del (p.Cys9fs)	PMM2 (C9fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 2429015	NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)	PMM2 (C9F)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 7720	NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	PMM2 (C9Y)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2677895	NM_000303.3(PMM2):c.28del (p.Leu10fs)	PMM2 (L10fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1151157	NM_000303.3(PMM2):c.27C>T (p.Cys9=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 371018	NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)	PMM2 (C9*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2585363	NM_000303.3(PMM2):c.28C>G (p.Leu10Val)	PMM2 (L10V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 931845	NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)	PMM2 (L10F)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2486701	NM_000303.3(PMM2):c.31T>G (p.Phe11Val)	PMM2 (F11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098914	NM_000303.3(PMM2):c.34G>C (p.Asp12His)	PMM2 (D12H)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 1699797	NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)	PMM2 (D14N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 557455	NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	PMM2 (G15R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553249	NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	PMM2 (G15A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1080746	NM_000303.3(PMM2):c.45G>C (p.Gly15=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1325806	NM_000303.3(PMM2):c.47C>T (p.Thr16Ile)	PMM2 (T16I)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2843493	NM_000303.3(PMM2):c.48C>A (p.Thr16=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2761745	NM_000303.3(PMM2):c.51C>G (p.Leu17=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1129342	NM_000303.3(PMM2):c.51C>A (p.Leu17=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2840279	NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)	PMM2 (T18A)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 664093	NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)	PMM2 (T18P)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 521048	NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	PMM2 (T18S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 2842897	NM_000303.3(PMM2):c.54C>T (p.Thr18=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 659079	NM_000303.3(PMM2):c.55del (p.Ala19fs)	PMM2 (A19fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1367452	NM_000303.3(PMM2):c.59del (p.Pro20fs)	PMM2 (P20fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 837009	NM_000303.3(PMM2):c.56C>T (p.Ala19Val)	PMM2 (A19V)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 689645	NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	PMM2 (P20S)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2164040	NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)	PMM2 (P20L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 835199	NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)	PMM2 (P20R)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2677898	NM_000303.3(PMM2):c.61dup (p.Arg21fs)	PMM2 (R21fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1158303	NM_000303.3(PMM2):c.60G>A (p.Pro20=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1284906	NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)	PMM2 (R21G)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 1159166	NM_000303.3(PMM2):c.61C>A (p.Arg21=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 193080	NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	PMM2 (R21W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2852212	NM_000303.3(PMM2):c.63G>A (p.Arg21=)	PMM2	Single nucleotide variant (synonymous variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2677886	NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)	PMM2 (Q22*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 2838165	NM_000303.3(PMM2):c.66_66+1delinsTA	PMM2	Indel (splice donor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 550661	NM_000303.3(PMM2):c.66+1del	PMM2	Deletion (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1073938	NM_000303.3(PMM2):c.66+1G>A	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic
Select item 632948	NM_000303.3(PMM2):c.66+1G>T	PMM2	Single nucleotide variant (splice donor variant)	PMM2-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 639844	NM_000303.3(PMM2):c.66+5G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1136117	NM_000303.3(PMM2):c.66+10_66+12del	PMM2	Microsatellite (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1095987	NM_000303.3(PMM2):c.66+7G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2988280	NM_000303.3(PMM2):c.66+9C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2176645	NM_000303.3(PMM2):c.66+9C>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1559641	NM_000303.3(PMM2):c.66+10G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 799588	NM_000303.3(PMM2):c.66+13_66+20del	PMM2	Deletion (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2181375	NM_000303.3(PMM2):c.66+12C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2764984	NM_000303.3(PMM2):c.66+13C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2813980	NM_000303.3(PMM2):c.66+17G>A	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 2803180	NM_000303.3(PMM2):c.66+20C>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely benign
Select item 1258936	NM_000303.3(PMM2):c.66+180G>C	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180926	NM_000303.3(PMM2):c.66+209C>T	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation +1 more	GBenign
Select item 1270331	NM_000303.3(PMM2):c.67-300A>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292313	NM_000303.3(PMM2):c.67-120A>T	PMM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186087	NM_000303.3(PMM2):c.67-119T>A	PMM2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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