ClinVar for Gene (Select 55149) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343771	NM_018109.4(MTPAP):c.321T>A (p.Tyr107Ter)	MTPAP (Y107*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3296751	NM_018109.4(MTPAP):c.125G>C (p.Arg42Thr)	LOC130003598, MTPAP (R42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233611	NM_018109.4(MTPAP):c.211C>T (p.Arg71Ter)	MTPAP (R71*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3217375	NM_018109.4(MTPAP):c.641T>C (p.Ile214Thr)	MTPAP (I214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217360	NM_018109.4(MTPAP):c.28A>G (p.Thr10Ala)	LOC130003598, MTPAP (T10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217341	NM_018109.4(MTPAP):c.1613G>C (p.Arg538Thr)	MTPAP (R538T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217330	NM_018109.4(MTPAP):c.1493T>G (p.Phe498Cys)	MTPAP (F498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217320	NM_018109.4(MTPAP):c.127G>A (p.Asp43Asn)	MTPAP (D43N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217312	NM_018109.4(MTPAP):c.1168A>G (p.Arg390Gly)	MTPAP (R390G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217307	NM_018109.4(MTPAP):c.1054G>A (p.Ala352Thr)	MTPAP (A352T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217303	NM_018109.4(MTPAP):c.1018C>T (p.Leu340Phe)	MTPAP (L340F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 3059530	NM_018109.4(MTPAP):c.999C>G (p.Ala333=)	MTPAP	Single nucleotide variant (synonymous variant)	MTPAP-related disorder	GLikely benign
Select item 3039920	NM_018109.3(MTPAP):c.-5_-4insTTA	LOC130003598, MTPAP	Insertion	MTPAP-related disorder	GLikely benign
Select item 3005352	NM_018109.4(MTPAP):c.1179C>A (p.Pro393=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004834	NM_018109.4(MTPAP):c.912A>G (p.Lys304=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982862	NM_018109.4(MTPAP):c.609C>T (p.Asn203=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979087	NM_018109.4(MTPAP):c.1542A>G (p.Thr514=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971960	NM_018109.4(MTPAP):c.574A>G (p.Thr192Ala)	MTPAP (T192A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971087	NM_018109.4(MTPAP):c.1236T>C (p.Cys412=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959914	NM_018109.4(MTPAP):c.588G>A (p.Glu196=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878815	NM_018109.4(MTPAP):c.231T>A (p.Thr77=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851868	NM_018109.4(MTPAP):c.331-19_331-8del	MTPAP	Deletion (intron variant)	not provided	GLikely benign
Select item 2803745	NM_018109.4(MTPAP):c.1446T>A (p.Thr482=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799618	NM_018109.4(MTPAP):c.993-8T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796663	NM_018109.4(MTPAP):c.1468G>A (p.Val490Ile)	MTPAP (V490I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761522	NM_018109.4(MTPAP):c.981T>C (p.Thr327=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752415	NM_018109.4(MTPAP):c.411C>T (p.Ala137=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699624	NM_018109.4(MTPAP):c.1312+20C>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684268	NM_018109.4(MTPAP):c.1693A>G (p.Arg565Gly)	MTPAP (R565G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640392	NM_018109.4(MTPAP):c.693C>G (p.Gly231=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2558848	NM_018109.4(MTPAP):c.175C>T (p.Pro59Ser)	MTPAP (P59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539554	NM_018109.4(MTPAP):c.439C>T (p.Arg147Cys)	MTPAP (R147C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503122	NM_018109.4(MTPAP):c.582G>T (p.Leu194Phe)	MTPAP (L194F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477523	NM_018109.4(MTPAP):c.1676A>C (p.Glu559Ala)	MTPAP (E559A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464102	NM_018109.4(MTPAP):c.500A>G (p.Asn167Ser)	MTPAP (N167S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426436	NC_000010.10:g.(?_30602538)_(31816192_?)dup	LYZL2, MAP3K8 +3 more	Duplication	not provided	GUncertain significance
Select item 2319146	NM_018109.4(MTPAP):c.422C>T (p.Ala141Val)	MTPAP (A141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306165	NM_018109.4(MTPAP):c.13G>T (p.Gly5Cys)	LOC130003598, MTPAP (G5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289929	NM_018109.4(MTPAP):c.1508G>A (p.Arg503Gln)	MTPAP (R503Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274801	NM_018109.4(MTPAP):c.1732A>G (p.Ile578Val)	MTPAP (I578V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245135	NM_018109.4(MTPAP):c.1180C>A (p.Pro394Thr)	MTPAP (P394T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222409	NM_018109.4(MTPAP):c.487G>A (p.Val163Ile)	MTPAP (V163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2192760	NM_018109.4(MTPAP):c.1594C>G (p.Leu532Val)	MTPAP (L532V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190647	NM_018109.4(MTPAP):c.780+9A>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190359	NM_018109.4(MTPAP):c.136C>A (p.Pro46Thr)	MTPAP (P46T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183084	NM_018109.4(MTPAP):c.990T>C (p.Asn330=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182204	NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)	MTPAP (T542A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181697	NM_018109.4(MTPAP):c.479G>A (p.Arg160Gln)	MTPAP (R160Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175423	NM_018109.4(MTPAP):c.421G>A (p.Ala141Thr)	MTPAP (A141T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173443	NM_018109.4(MTPAP):c.1672C>T (p.Leu558=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167850	NM_018109.4(MTPAP):c.92G>A (p.Ser31Asn)	LOC130003598, MTPAP (S31N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164338	NM_018109.4(MTPAP):c.17T>C (p.Val6Ala)	LOC130003598, MTPAP (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149724	NM_018109.4(MTPAP):c.1426A>G (p.Ile476Val)	MTPAP (I476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142638	NM_018109.4(MTPAP):c.407C>T (p.Thr136Met)	MTPAP (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135597	NM_018109.4(MTPAP):c.1419T>C (p.Pro473=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134264	NM_018109.4(MTPAP):c.238A>G (p.Ile80Val)	MTPAP (I80V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2131576	NM_018109.4(MTPAP):c.1220-12T>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2131330	NM_018109.4(MTPAP):c.776A>G (p.His259Arg)	MTPAP (H259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128637	NM_018109.4(MTPAP):c.1313-29_1313-13del	MTPAP	Deletion (intron variant)	not provided	GUncertain significance
Select item 2127332	NM_018109.4(MTPAP):c.1025T>C (p.Ile342Thr)	MTPAP (I342T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125623	NM_018109.4(MTPAP):c.1004C>T (p.Thr335Ile)	MTPAP (T335I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121670	NM_018109.4(MTPAP):c.157+4A>T	LOC130003597, MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2117507	NM_018109.4(MTPAP):c.1387-16G>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117032	NM_018109.4(MTPAP):c.195G>A (p.Glu65=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116537	NM_018109.4(MTPAP):c.226C>T (p.Arg76Trp)	MTPAP (R76W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114755	NM_018109.4(MTPAP):c.1597C>T (p.Pro533Ser)	MTPAP (P533S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111886	NM_018109.4(MTPAP):c.556-6A>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2109655	NM_018109.4(MTPAP):c.345C>G (p.Val115=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107962	NM_018109.4(MTPAP):c.1578G>C (p.Gly526=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107009	NM_018109.4(MTPAP):c.110C>T (p.Ala37Val)	LOC130003598, MTPAP (A37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106855	NM_018109.4(MTPAP):c.766C>T (p.Leu256Phe)	MTPAP (L256F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105860	NM_018109.4(MTPAP):c.398C>T (p.Thr133Ile)	MTPAP (T133I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103493	NM_018109.4(MTPAP):c.1534G>A (p.Glu512Lys)	MTPAP (E512K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102927	NM_018109.4(MTPAP):c.925C>A (p.Arg309=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101781	NM_018109.4(MTPAP):c.1678T>C (p.Ser560Pro)	MTPAP (S560P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100004	NM_018109.4(MTPAP):c.579C>A (p.Leu193=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098306	NM_018109.4(MTPAP):c.470C>A (p.Thr157Asn)	MTPAP (T157N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096543	NM_018109.4(MTPAP):c.745G>A (p.Asp249Asn)	MTPAP (D249N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094093	NM_018109.4(MTPAP):c.157+19C>T	LOC130003597, MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088301	NM_018109.4(MTPAP):c.556-19T>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085783	NM_018109.4(MTPAP):c.1628A>C (p.Lys543Thr)	MTPAP (K543T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2081806	NM_018109.4(MTPAP):c.1312+3_1312+6del	MTPAP	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2081566	NM_018109.4(MTPAP):c.1108A>G (p.Ile370Val)	MTPAP (I370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2078964	NM_018109.4(MTPAP):c.984G>A (p.Thr328=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071495	NM_018109.4(MTPAP):c.50G>T (p.Arg17Leu)	LOC130003598, MTPAP (R17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069593	NM_018109.4(MTPAP):c.338A>G (p.Tyr113Cys)	MTPAP (Y113C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067489	NM_018109.4(MTPAP):c.478C>T (p.Arg160Trp)	MTPAP (R160W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065125	NM_018109.4(MTPAP):c.1599A>G (p.Pro533=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060843	NM_018109.4(MTPAP):c.356G>A (p.Cys119Tyr)	MTPAP (C119Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044783	NM_018109.4(MTPAP):c.500A>T (p.Asn167Ile)	MTPAP (N167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035123	NM_018109.4(MTPAP):c.331-12T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030633	NM_018109.4(MTPAP):c.1219+11A>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030600	NM_018109.4(MTPAP):c.615G>A (p.Lys205=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024149	NM_018109.4(MTPAP):c.966T>C (p.Phe322=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024132	NM_018109.4(MTPAP):c.1564A>G (p.Asn522Asp)	MTPAP (N522D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023407	NM_018109.4(MTPAP):c.1612A>C (p.Arg538=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022712	NM_018109.4(MTPAP):c.29C>G (p.Thr10Ser)	LOC130003598, MTPAP (T10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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