5723[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 154478	GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GBenign
Select item 145628	GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GUncertain significance
Select item 360493	NM_004577.4(PSPH):c.*649A>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 911456	NM_004577.4(PSPH):c.*588G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360494	NM_004577.4(PSPH):c.*490C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 908474	NM_004577.4(PSPH):c.*457C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360495	NM_004577.4(PSPH):c.*406G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 360496	NM_004577.4(PSPH):c.*371A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360497	NM_004577.4(PSPH):c.*361A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 360498	NM_004577.4(PSPH):c.*341G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase +1 more	GUncertain significance
Select item 360499	NM_004577.4(PSPH):c.*317G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360500	NM_004577.4(PSPH):c.*316C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360501	NM_004577.4(PSPH):c.*309A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909321	NM_004577.4(PSPH):c.*278C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360502	NM_004577.4(PSPH):c.*277G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360503	NM_004577.4(PSPH):c.*233dup	PSPH	Duplication (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909322	NM_004577.4(PSPH):c.*203T>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909323	NM_004577.4(PSPH):c.*157C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909324	NM_004577.4(PSPH):c.*46A>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909325	NM_004577.4(PSPH):c.*22A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909326	NM_004577.4(PSPH):c.*12G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360504	NM_004577.4(PSPH):c.*11C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 910292	NM_004577.4(PSPH):c.*8T>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 1357241	NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)	PSPH (E225K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2416062	NM_004577.4(PSPH):c.672A>G (p.Glu224=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 741327	NM_004577.4(PSPH):c.666A>G (p.Glu222=)	PSPH	Single nucleotide variant (synonymous variant)	not provided	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 391900	NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	PSPH (V217A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 758332	NM_004577.4(PSPH):c.624C>T (p.Asn208=)	PSPH	Single nucleotide variant (synonymous 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 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 1593545	NM_004577.4(PSPH):c.609A>G (p.Gln203=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 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 944490	NM_004577.4(PSPH):c.596A>T (p.Asn199Ile)	PSPH (N199I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	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 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 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 1544682	NM_004577.4(PSPH):c.570+19A>G	PSPH	Single nucleotide variant (intron 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 2123576	NM_004577.4(PSPH):c.570+12G>C	PSPH	Single nucleotide variant (intron 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 2258859	NM_004577.4(PSPH):c.551T>G (p.Met184Arg)	PSPH (M184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2734792	NM_004577.4(PSPH):c.540T>C (p.Gly180=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 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 1604695	NM_004577.4(PSPH):c.489A>G (p.Lys163=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 910293	NM_004577.4(PSPH):c.481G>A (p.Val161Met)	PSPH (V161M)	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 1450745	NM_004577.4(PSPH):c.469G>T (p.Gly157Ter)	PSPH (G157*)	Single nucleotide variant (nonsense)	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 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 360505	NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)	PSPH (T152I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GConflicting classifications of pathogenicity
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 1538624	NM_004577.4(PSPH):c.447G>A (p.Thr149=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 1916536	NM_004577.4(PSPH):c.441T>C (p.Asp147=)	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 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 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 2973756	NM_004577.4(PSPH):c.422-4T>G	PSPH	Single nucleotide variant (intron 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 2759983	NM_004577.4(PSPH):c.421+20A>T	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 1576046	NM_004577.4(PSPH):c.421+12A>T	PSPH	Single nucleotide variant (intron 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 1365040	NM_004577.4(PSPH):c.420C>T (p.Asn140=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
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 2139591	NM_004577.4(PSPH):c.408A>G (p.Lys136=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 870149	NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)	PSPH (N133S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 225051	NM_004577.4(PSPH):c.397A>C (p.Asn133His)	PSPH (N133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2017385	NM_004577.4(PSPH):c.372T>C (p.Asn124=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 1646956	NM_004577.4(PSPH):c.369C>T (p.Leu123=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 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 759504	NM_004577.4(PSPH):c.354T>C (p.His118=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign
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 2186809	NM_004577.4(PSPH):c.351G>A (p.Glu117=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GLikely benign

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