ClinVar for Gene (Select 5723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220531	NM_004577.4(PSPH):c.34T>A (p.Tyr12Asn)	PSPH (Y12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220530	NM_004577.4(PSPH):c.143C>T (p.Thr48Ile)	PSPH (T48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043010	NM_004577.4(PSPH):c.140+7A>G	PSPH	Single nucleotide variant (intron variant)	PSPH-related disorder	GLikely benign
Select item 2973756	NM_004577.4(PSPH):c.422-4T>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2841890	NM_004577.4(PSPH):c.276-20T>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2834234	NM_004577.4(PSPH):c.651A>G (p.Val217=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2823860	NM_004577.4(PSPH):c.390A>G (p.Val130=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2816482	NM_004577.4(PSPH):c.432A>C (p.Ala144=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2799148	NM_004577.4(PSPH):c.549T>C (p.Asp183=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2769915	NM_004577.4(PSPH):c.276-17T>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2759983	NM_004577.4(PSPH):c.421+20A>T	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2748570	NM_004577.4(PSPH):c.276-4G>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2737457	NM_004577.4(PSPH):c.421+20A>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2734792	NM_004577.4(PSPH):c.540T>C (p.Gly180=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2722961	NM_004577.4(PSPH):c.570+14G>A	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2614084	NM_004577.4(PSPH):c.125A>T (p.Asp42Val)	PSPH (D42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529981	NM_004577.4(PSPH):c.185T>C (p.Leu62Pro)	PSPH (L62P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416566	NM_004577.4(PSPH):c.353A>G (p.His118Arg)	PSPH (H118R)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2416062	NM_004577.4(PSPH):c.672A>G (p.Glu224=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2402123	NM_004577.4(PSPH):c.160G>A (p.Gly54Arg)	PSPH (G54R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375553	NM_004577.4(PSPH):c.24G>T (p.Arg8Ser)	PSPH (R8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258859	NM_004577.4(PSPH):c.551T>G (p.Met184Arg)	PSPH (M184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247831	NM_004577.4(PSPH):c.191A>G (p.Glu64Gly)	PSPH (E64G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196737	NM_004577.4(PSPH):c.595A>C (p.Asn199His)	PSPH (N199H)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2195722	NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)	PSPH (S114I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2186809	NM_004577.4(PSPH):c.351G>A (p.Glu117=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2140648	NM_004577.4(PSPH):c.276-14A>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2139591	NM_004577.4(PSPH):c.408A>G (p.Lys136=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2136541	NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)	PSPH (G141S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2133692	NM_004577.4(PSPH):c.604A>C (p.Arg202=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2123576	NM_004577.4(PSPH):c.570+12G>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2111906	NM_004577.4(PSPH):c.276-2A>G	PSPH	Single nucleotide variant (splice acceptor variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2097347	NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)	PSPH (A120S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2082238	NM_004577.4(PSPH):c.612A>C (p.Gln204His)	PSPH (Q204H)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GUncertain significance
Select item 2079796	NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)	PSPH (R101Q)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2074117	NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)	PSPH (A127T)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2050578	NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)	PSPH (K122N)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2017385	NM_004577.4(PSPH):c.372T>C (p.Asn124=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 2015770	NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)	PSPH (G198E)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2003441	NM_004577.4(PSPH):c.484A>G (p.Ile162Val)	PSPH (I162V)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 2001692	NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)	PSPH (E142K)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1994879	NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)	PSPH (S155F)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1994878	NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)	PSPH (R134S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1916536	NM_004577.4(PSPH):c.441T>C (p.Asp147=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1646956	NM_004577.4(PSPH):c.369C>T (p.Leu123=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1646929	NM_004577.4(PSPH):c.422-14A>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1639079	NM_004577.4(PSPH):c.422-14A>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1604695	NM_004577.4(PSPH):c.489A>G (p.Lys163=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1593545	NM_004577.4(PSPH):c.609A>G (p.Gln203=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1576511	NM_004577.4(PSPH):c.450G>A (p.Gln150=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1576046	NM_004577.4(PSPH):c.421+12A>T	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1544682	NM_004577.4(PSPH):c.570+19A>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1539278	NM_004577.4(PSPH):c.615C>T (p.Val205=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1538624	NM_004577.4(PSPH):c.447G>A (p.Thr149=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1534510	NM_004577.4(PSPH):c.542C>T (p.Ala181Val)	PSPH (A181V)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1533605	NM_004577.4(PSPH):c.339G>A (p.Arg113=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1530441	NM_004577.4(PSPH):c.414C>T (p.Tyr138=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1524447	NM_004577.4(PSPH):c.570+5G>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1513740	NM_004577.4(PSPH):c.371A>G (p.Asn124Ser)	PSPH (N124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1492699	NM_004577.4(PSPH):c.386A>G (p.Asn129Ser)	PSPH (N129S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1477627	NM_004577.4(PSPH):c.509A>G (p.His170Arg)	PSPH (H170R)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1467711	NC_000007.13:g.(?_56079455)_(56174106_?)dup	SUMF2, CCT6A +3 more	Duplication	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1466162	NM_004577.4(PSPH):c.506T>C (p.Phe169Ser)	PSPH (F169S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1450745	NM_004577.4(PSPH):c.469G>T (p.Gly157Ter)	PSPH (G157*)	Single nucleotide variant (nonsense)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1446572	NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys)	PSPH (Y212C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1443927	NC_000007.13:g.(?_56079455)_(56085092_?)del	PSPH	Deletion	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1442705	NC_000007.13:g.(?_56079455)_(56085092_?)dup	PSPH	Duplication	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1416801	NM_004577.4(PSPH):c.305A>G (p.Asn102Ser)	PSPH (N102S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1414019	NM_004577.4(PSPH):c.316T>C (p.Phe106Leu)	PSPH (F106L)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1413710	NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)	PSPH (T214S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1412779	NM_004577.4(PSPH):c.351G>T (p.Glu117Asp)	PSPH (E117D)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GUncertain significance
Select item 1411251	NC_000007.13:g.(?_56079455)_(56082884_?)del	PSPH	Deletion	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1411250	NC_000007.13:g.(?_56079455)_(56174106_?)del	CCT6A, CHCHD2 +3 more	Deletion	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1409720	NM_004577.4(PSPH):c.289C>T (p.Arg97Cys)	PSPH (R97C)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1409070	NM_004577.4(PSPH):c.276G>A (p.Arg92=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1402580	NM_004577.4(PSPH):c.575C>T (p.Ala192Val)	PSPH (A192V)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1389630	NM_004577.4(PSPH):c.467G>A (p.Gly156Asp)	PSPH (G156D)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1382194	NM_004577.4(PSPH):c.446C>T (p.Thr149Met)	PSPH (T149M)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1379226	NM_004577.4(PSPH):c.647T>G (p.Phe216Cys)	PSPH (F216C)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1374017	NM_004577.4(PSPH):c.597T>G (p.Asn199Lys)	PSPH (N199K)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1365040	NM_004577.4(PSPH):c.420C>T (p.Asn140=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1359879	NM_004577.4(PSPH):c.422-3A>C	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase +1 more	GUncertain significance
Select item 1357241	NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)	PSPH (E225K)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GUncertain significance
Select item 1355041	NM_004577.4(PSPH):c.346G>A (p.Val116Ile)	PSPH (V116I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1349597	NM_004577.4(PSPH):c.479A>G (p.Lys160Arg)	PSPH (K160R)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1346537	NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe)	PSPH	Insertion (inframe_insertion)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1340760	GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340644	GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1175047	NM_004577.4(PSPH):c.4G>A (p.Val2Ile)	PSPH (V2I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1175045	NM_004577.4(PSPH):c.268G>A (p.Gly90Ser)	PSPH (G90S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1077155	NM_004577.4(PSPH):c.-3G>A	PSPH	Single nucleotide variant (5 prime UTR variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 1077154	NM_004577.4(PSPH):c.-2C>G	PSPH	Single nucleotide variant (5 prime UTR variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 999748	NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)	PSPH (E225Q)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 993024	NM_004577.4(PSPH):c.340del (p.Ser114fs)	PSPH (S114fs)	Deletion (frameshift variant)	Deficiency of phosphoserine phosphatase	GLikely pathogenic
Select item 978149	NM_004577.4(PSPH):c.301C>T (p.Arg101Ter)	PSPH (R101*)	Single nucleotide variant (nonsense)	Seizure +1 more	GLikely pathogenic
Select item 944490	NM_004577.4(PSPH):c.596A>T (p.Asn199Ile)	PSPH (N199I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance

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