ClinVar for Gene (Select 22934) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 123

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062514	GRCh37/hg19 2p11.2(chr2:88134750-89126290)x1	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3049376	NM_144563.3(RPIA):c.463-10C>T	RPIA	Single nucleotide variant (intron variant)	RPIA-related condition	GLikely benign
Select item 3007942	NM_144563.3(RPIA):c.153C>T (p.Thr51=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974771	NM_144563.3(RPIA):c.527+12G>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971406	NM_144563.3(RPIA):c.597-16G>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870117	NM_144563.3(RPIA):c.597-8_597-6del	RPIA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2848254	NM_144563.3(RPIA):c.658A>G (p.Met220Val)	RPIA (M220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824040	NM_144563.3(RPIA):c.738+14T>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822959	NM_144563.3(RPIA):c.72C>G (p.Gly24=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822574	NM_144563.3(RPIA):c.839-14C>G	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819280	NM_144563.3(RPIA):c.838+13G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725026	NM_144563.3(RPIA):c.935G>A (p.Ter312=)	RPIA	Single nucleotide variant (synonymous variant)	RPIA-related condition +1 more	GLikely benign
Select item 2682322	NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)	RPIA (R227*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 2662889	NM_144563.3(RPIA):c.4C>T (p.Gln2Ter)	LOC129934277, RPIA (Q2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2651110	NM_144563.3(RPIA):c.585C>T (p.Ile195=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613644	NM_144563.3(RPIA):c.143A>G (p.Gln48Arg)	LOC129934277, RPIA (Q48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556979	NM_144563.3(RPIA):c.334G>A (p.Val112Met)	RPIA (V112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458836	NM_144563.3(RPIA):c.16C>T (p.Pro6Ser)	LOC129934277, RPIA (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330397	NM_144563.3(RPIA):c.892A>T (p.Met298Leu)	RPIA (M298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278118	NM_144563.3(RPIA):c.923A>G (p.Lys308Arg)	RPIA (K308R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276197	NM_144563.3(RPIA):c.528-6C>T	RPIA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2254461	NM_144563.3(RPIA):c.10C>T (p.Pro4Ser)	LOC129934277, RPIA (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238161	NM_144563.3(RPIA):c.199A>G (p.Ser67Gly)	RPIA, LOC129934277 (S67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207838	NM_144563.3(RPIA):c.146C>T (p.Ser49Phe)	LOC129934277, RPIA (S49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200607	NM_144563.3(RPIA):c.322A>G (p.Ile108Val)	RPIA (I108V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2094964	NM_144563.3(RPIA):c.497A>G (p.Asp166Gly)	RPIA (D166G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092985	NM_144563.3(RPIA):c.802T>G (p.Trp268Gly)	RPIA (W268G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082776	NM_144563.3(RPIA):c.535C>G (p.Leu179Val)	RPIA (L179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064631	NM_144563.3(RPIA):c.93G>A (p.Gly31=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057992	NM_144563.3(RPIA):c.212C>A (p.Ala71Asp)	RPIA (A71D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056294	NM_144563.3(RPIA):c.596+4_596+5del	RPIA	Deletion (intron variant)	not provided	GUncertain significance
Select item 2055832	NM_144563.3(RPIA):c.12C>G (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021430	NM_144563.3(RPIA):c.195dup (p.Asn66fs)	LOC129934277, RPIA (N66fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1988970	NM_144563.3(RPIA):c.839-7C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980521	NM_144563.3(RPIA):c.154C>T (p.Arg52Cys)	LOC129934277, RPIA (R52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979943	NM_144563.3(RPIA):c.347-5C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978867	NM_144563.3(RPIA):c.74C>G (p.Ala25Gly)	LOC129934277, RPIA (A25G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972973	NM_144563.3(RPIA):c.605C>T (p.Ser202Leu)	RPIA (S202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925409	NM_144563.3(RPIA):c.12C>A (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914243	NM_144563.3(RPIA):c.925C>T (p.Pro309Ser)	RPIA (P309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911324	NM_144563.3(RPIA):c.403-12T>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911289	NM_144563.3(RPIA):c.403-11G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911125	NM_144563.3(RPIA):c.121G>T (p.Val41Leu)	LOC129934277, RPIA (V41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900381	NM_144563.3(RPIA):c.27C>T (p.Thr9=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808125	GRCh37/hg19 2p11.2(chr2:88046609-89126291)x1	RPIA, SMYD1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1716500	NM_144563.3(RPIA):c.304A>C (p.Ile102Leu)	RPIA (I102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1683399	NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)	RPIA (R151*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase +1 more	GPathogenic
Select item 1673851	NM_144563.3(RPIA):c.286-13C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650538	NM_144563.3(RPIA):c.738+20C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632798	NM_144563.3(RPIA):c.286-12G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602584	NM_144563.3(RPIA):c.738+7G>C	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567135	NM_144563.3(RPIA):c.654C>A (p.Ile218=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553358	NM_144563.3(RPIA):c.286-10T>G	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543832	NM_144563.3(RPIA):c.228C>T (p.Ser76=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535016	NM_144563.3(RPIA):c.285+19G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526862	GRCh37/hg19 2p11.2(chr2:88180842-89126291)	EIF2AK3, FABP1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1526851	GRCh37/hg19 2p11.2(chr2:88046608-89126291)	EIF2AK3, FABP1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1408917	NM_144563.3(RPIA):c.11C>T (p.Pro4Leu)	LOC129934277, RPIA (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406978	NM_144563.3(RPIA):c.354G>C (p.Arg118Ser)	RPIA (R118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1387044	NM_144563.3(RPIA):c.265G>C (p.Ala89Pro)	RPIA (A89P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1332818	NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)	RPIA (I257T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 1303034	NM_144563.3(RPIA):c.197A>G (p.Asn66Ser)	LOC129934277, RPIA (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176758	GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1	SMYD1, SPMIP9 +8 more	Copy number loss	not provided	GPathogenic
Select item 1169292	NM_144563.3(RPIA):c.596+20A>T	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 976162	NM_144563.3(RPIA):c.596+3A>G	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 928792	NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	RPIA (A85T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 928791	NM_144563.3(RPIA):c.347-1G>A	RPIA	Single nucleotide variant (splice acceptor variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 898710	NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	RPIA (R264W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898709	NM_144563.3(RPIA):c.789C>T (p.Asp263=)	RPIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898708	NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	RPIA (D148G)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 897556	NM_144563.3(RPIA):c.177C>T (p.Ser59=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 897555	NM_144563.3(RPIA):c.57C>T (p.Pro19=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GConflicting classifications of pathogenicity
Select item 897554	NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	LOC129934277, RPIA (Q2R)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GConflicting classifications of pathogenicity
Select item 897553	NM_144563.3(RPIA):c.-17C>A	LOC129934277, RPIA	Single nucleotide variant (5 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896020	NM_144563.3(RPIA):c.*783A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896019	NM_144563.3(RPIA):c.*728T>C	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896018	NM_144563.3(RPIA):c.*635A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896017	NM_144563.3(RPIA):c.*591G>T	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 896016	NM_144563.3(RPIA):c.*558G>A	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895737	NM_144563.3(RPIA):c.*281A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895736	NM_144563.3(RPIA):c.*241A>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GLikely benign
Select item 895735	NM_144563.3(RPIA):c.*134A>C	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 895734	NM_144563.3(RPIA):c.*29T>G	RPIA	Single nucleotide variant (3 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 814281	GRCh37/hg19 2p11.2(chr2:88403403-89129064)x3	THNSL2, FOXI3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 786863	NM_144563.3(RPIA):c.106C>A (p.Leu36Ile)	LOC129934277, RPIA (L36I)	Single nucleotide variant (missense variant)	RPIA-related condition +1 more	GBenign/Likely benign
Select item 749031	NM_144563.3(RPIA):c.924G>A (p.Lys308=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748412	NM_144563.3(RPIA):c.12C>T (p.Pro4=)	RPIA, LOC129934277	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742902	NM_144563.3(RPIA):c.84C>T (p.Gly28=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737058	NM_144563.3(RPIA):c.642C>T (p.Pro214=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734707	NM_144563.3(RPIA):c.561C>T (p.Gly187=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733976	NM_144563.3(RPIA):c.615C>T (p.Leu205=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731489	NM_144563.3(RPIA):c.513C>T (p.Leu171=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635118	NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	RPIA (W209C)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442637	GRCh37/hg19 2p11.2(chr2:88046608-89129064)x1	EIF2AK3, FABP1 +7 more	Copy number loss	See cases	Gconflicting data from submitters

<< First< Prev

Page of 2