ClinVar for Gene (Select 9526) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064734	NM_004870.4(MPDU1):c.388+17del	MPDU1 (K136fs)	Deletion (frameshift variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2691673	NM_004870.4(MPDU1):c.619-17C>G	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2689438	NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)	MPDU1 (Q247L)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 2663022	NM_004870.4(MPDU1):c.666_667del (p.Cys223fs)	MPDU1 (C223fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2647366	NM_004870.4(MPDU1):c.388+59C>G	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2515648	NM_004870.4(MPDU1):c.644G>A (p.Gly215Glu)	MPDU1 (G215E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2492692	NM_004870.4(MPDU1):c.134G>T (p.Gly45Val)	MPDU1 (G45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485699	NM_004870.4(MPDU1):c.230A>C (p.Gln77Pro)	MPDU1 (Q77P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465500	NM_004870.4(MPDU1):c.91G>C (p.Asp31His)	MPDU1, MPDU1-AS1 (D31H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2324544	NM_004870.4(MPDU1):c.127A>C (p.Ser43Arg)	MPDU1 (S43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240105	NM_004870.4(MPDU1):c.23C>T (p.Pro8Leu)	MPDU1-AS1, MPDU1 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2237774	NM_004870.4(MPDU1):c.169+4T>G	MPDU1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2052017	NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)	MPDU1 (S197P)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1970053	NM_004870.4(MPDU1):c.170-1G>A	MPDU1	Single nucleotide variant (splice acceptor variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1956438	NM_004870.4(MPDU1):c.468G>A (p.Leu156=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1937258	NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)	MPDU1 (Y137C)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1903250	NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)	MPDU1 (T113S)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1661950	NM_004870.4(MPDU1):c.591C>G (p.Ser197=)	MPDU1 (P178R)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1651094	NM_004870.4(MPDU1):c.303-9A>G	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1628852	NM_004870.4(MPDU1):c.636G>C (p.Leu212=)	MPDU1	Single nucleotide variant (stop lost +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1582606	NM_004870.4(MPDU1):c.103+19C>T	MPDU1, MPDU1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1511958	NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala)	MPDU1 (I191M +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1444219	NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg)	MPDU1 (K238R)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1347327	NM_004870.4(MPDU1):c.303-16A>G	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1341139	GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3	FXR2, CD68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1333683	NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer)	MPDU1, MPDU1-AS1	Deletion (non-coding transcript variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 1325936	NM_004870.4(MPDU1):c.103+102T>C	MPDU1, MPDU1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1302252	NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)	MPDU1 (I50T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1283837	NM_004870.4(MPDU1):c.303-240_303-239del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 1228784	NM_004870.4(MPDU1):c.104-195_104-194del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 1137819	NM_004870.4(MPDU1):c.582T>C (p.Phe194=)	MPDU1 (L175S)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 1036624	NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu)	MPDU1 (S172Y +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1034127	NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp)	LOC100996842, MPDU1 (C22W)	Single nucleotide variant (non-coding transcript variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1034126	NM_004870.4(MPDU1):c.613A>G (p.Ile205Val)	MPDU1 (I205V)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 1017785	NM_004870.4(MPDU1):c.184G>A (p.Val62Met)	MPDU1 (V62M)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 996029	NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro)	MPDU1 (L46P)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 966796	NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln)	MPDU1 (R200Q +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 930801	NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)	MPDU1 (Q172*)	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 892418	NM_004870.4(MPDU1):c.*135C>G	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 892417	NM_004870.4(MPDU1):c.*27C>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 892416	NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln)	MPDU1 (K242Q)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 891228	NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu)	MPDU1 (S146L)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889664	NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)	MPDU1 (T113M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889663	NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu)	MPDU1 (F63L)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889662	NM_004870.4(MPDU1):c.84T>C (p.Val28=)	MPDU1, MPDU1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889661	NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser)	MPDU1, MPDU1-AS1 (L18S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889036	NM_006942.2(SOX15):c.*175G>A	MPDU1, SOX15	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 889035	NM_004870.4(MPDU1):c.*399G>C	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 851551	NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr)	MPDU1 (A135T)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 849655	NM_004870.4(MPDU1):c.729G>C (p.Gln243His)	MPDU1 (Q243H)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 817696	NM_004870.4(MPDU1):c.566_567del (p.Thr189fs)	MPDU1 (T189fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 815901	GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1	TNFSF12-TNFSF13, ZBTB4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 774455	NM_004870.4(MPDU1):c.537C>T (p.Asn179=)	MPDU1 (T160M)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 761854	NM_004870.4(MPDU1):c.207G>A (p.Lys69=)	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740426	NM_004870.4(MPDU1):c.388+10A>G	MPDU1 (D133G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 736476	NM_004870.4(MPDU1):c.444G>A (p.Leu148=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 703364	NM_004870.4(MPDU1):c.652G>T (p.Val218Leu)	MPDU1 (V218L)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation	GBenign/Likely benign
Select item 703346	NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys)	MPDU1 (S221C)	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GLikely benign
Select item 703002	NM_004870.4(MPDU1):c.24G>C (p.Pro8=)	LOC100996842, MPDU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 684508	NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)	MPDU1, MPDU1-AS1 (G7*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 682554	NM_004870.4(MPDU1):c.672C>T (p.Asn224=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 681461	NM_004870.4(MPDU1):c.388+16C>G	MPDU1 (P135R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 631790	NM_004870.4(MPDU1):c.619-2A>G	MPDU1	Single nucleotide variant (splice acceptor variant)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 570180	NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)	MPDU1, MPDU1-AS1 (E4K)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 533016	NM_004870.4(MPDU1):c.477del (p.Ser160fs)	MPDU1 (S160fs)	Deletion (frameshift variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 523948	NM_004870.4(MPDU1):c.511del (p.Leu171fs)	MPDU1 (S152fs +1 more)	Deletion (frameshift variant +1 more)	MPDU1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 509198	NM_004870.4(MPDU1):c.648C>T (p.Thr216=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 495319	NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)	MPDU1 (Q126P)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 495318	NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)	MPDU1 (G104S)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation	GLikely pathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 389197	NM_004870.4(MPDU1):c.12G>A (p.Glu4=)	MPDU1, MPDU1-AS1	Single nucleotide variant (synonymous variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 387361	NM_004870.4(MPDU1):c.618+14C>T	MPDU1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 386602	NM_004870.4(MPDU1):c.114C>G (p.Leu38=)	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 382610	NM_004870.3(MPDU1):c.-34G>A	MPDU1, MPDU1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 325526	NM_004870.4(MPDU1):c.*523dup	MPDU1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 325525	NM_004870.4(MPDU1):c.*462C>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325524	NM_004870.4(MPDU1):c.*308G>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325523	NM_004870.4(MPDU1):c.*255A>G	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325522	NM_004870.4(MPDU1):c.*105G>A	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325521	NM_004870.4(MPDU1):c.735G>A (p.Lys245=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation	GUncertain significance
Select item 325520	NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser)	MPDU1 (G225S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 325519	NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)	MPDU1 (A187V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 325518	NM_004870.4(MPDU1):c.508-9C>T	MPDU1	Single nucleotide variant (intron variant)	MPDU1-congenital disorder of glycosylation	GUncertain significance

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