PHKG1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 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 +228 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 2376858	NM_006213.5(PHKG1):c.1150G>A (p.Glu384Lys)	PHKG1, SUMF2 (E384K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352651	NM_006213.5(PHKG1):c.1114G>A (p.Glu372Lys)	PHKG1, SUMF2 (E372K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212247	NM_006213.5(PHKG1):c.1099C>T (p.Arg367Trp)	PHKG1, SUMF2 (R358W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293662	NM_006213.5(PHKG1):c.1063T>C (p.Tyr355His)	PHKG1, SUMF2 (Y355H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410794	NM_006213.5(PHKG1):c.1042G>A (p.Asp348Asn)	PHKG1, SUMF2 (D339N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212246	NM_006213.5(PHKG1):c.1033C>T (p.Arg345Trp)	PHKG1, SUMF2 (R336W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483652	NM_006213.5(PHKG1):c.997G>A (p.Val333Ile)	PHKG1, SUMF2 (V324I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519464	NM_006213.5(PHKG1):c.996C>G (p.Ile332Met)	PHKG1, SUMF2 (I323M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256883	NM_006213.5(PHKG1):c.995T>C (p.Ile332Thr)	PHKG1, SUMF2 (I332T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389418	NM_006213.5(PHKG1):c.989G>A (p.Arg330Gln)	PHKG1, SUMF2 (R362Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212255	NM_006213.5(PHKG1):c.970C>T (p.Arg324Trp)	PHKG1, SUMF2 (R315W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531044	NM_006213.5(PHKG1):c.968G>A (p.Arg323His)	PHKG1, SUMF2 (R323H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217624	NM_006213.5(PHKG1):c.967C>T (p.Arg323Cys)	PHKG1, SUMF2 (R323C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226075	NM_006213.5(PHKG1):c.949C>T (p.Arg317Trp)	PHKG1, SUMF2 (R317W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219078	NM_006213.5(PHKG1):c.934G>A (p.Val312Met)	PHKG1, SUMF2 (V303M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597746	NM_006213.5(PHKG1):c.905G>A (p.Arg302Gln)	PHKG1, SUMF2 (R293Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322440	NM_006213.5(PHKG1):c.889C>T (p.Arg297Trp)	PHKG1, SUMF2 (R329W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481504	NM_006213.5(PHKG1):c.845C>G (p.Ala282Gly)	PHKG1, SUMF2 (A314G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212254	NM_006213.5(PHKG1):c.836C>T (p.Ala279Val)	PHKG1, SUMF2 (A270V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212253	NM_006213.5(PHKG1):c.797C>T (p.Ser266Phe)	PHKG1, SUMF2 (S266F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382736	NM_006213.5(PHKG1):c.789C>G (p.Asp263Glu)	PHKG1, SUMF2 (D263E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226768	NM_006213.5(PHKG1):c.781G>A (p.Val261Met)	PHKG1, SUMF2 (V261M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569581	NM_006213.5(PHKG1):c.733G>A (p.Gly245Ser)	PHKG1, SUMF2 (G236S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268713	NM_006213.5(PHKG1):c.732C>A (p.Ser244Arg)	PHKG1, SUMF2 (S276R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484067	NM_006213.5(PHKG1):c.728T>C (p.Met243Thr)	PHKG1, SUMF2 (M243T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263697	NM_006213.5(PHKG1):c.728T>G (p.Met243Arg)	PHKG1, SUMF2 (M275R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278322	NM_006213.5(PHKG1):c.697C>T (p.Arg233Trp)	PHKG1, SUMF2 (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212252	NM_006213.5(PHKG1):c.685C>T (p.Pro229Ser)	PHKG1, SUMF2 (P220S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275672	NM_006213.5(PHKG1):c.637A>G (p.Met213Val)	PHKG1, SUMF2 (M213V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238127	NM_006213.5(PHKG1):c.580G>A (p.Glu194Lys)	PHKG1, SUMF2 (E226K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267243	NM_006213.5(PHKG1):c.457C>T (p.Pro153Ser)	PHKG1, SUMF2 (P185S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212251	NM_006213.5(PHKG1):c.293C>G (p.Thr98Ser)	PHKG1, SUMF2 (T89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212250	NM_006213.5(PHKG1):c.272A>G (p.Lys91Arg)	PHKG1, SUMF2 (K91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212249	NM_006213.5(PHKG1):c.248G>A (p.Gly83Glu)	PHKG1, SUMF2 (G83E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607955	NM_006213.5(PHKG1):c.211A>C (p.Thr71Pro)	PHKG1, SUMF2 (T71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352351	NM_006213.5(PHKG1):c.205G>A (p.Glu69Lys)	PHKG1, SUMF2 (E69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250151	NM_006213.5(PHKG1):c.203G>A (p.Arg68Gln)	PHKG1, SUMF2 (R68Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212248	NM_006213.5(PHKG1):c.194G>A (p.Arg65Gln)	PHKG1, SUMF2 (R65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531051	NM_006213.5(PHKG1):c.163G>A (p.Gly55Ser)	PHKG1, SUMF2 (G55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606253	NM_006213.5(PHKG1):c.54G>T (p.Glu18Asp)	PHKG1 (E18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405409	NM_006213.5(PHKG1):c.7C>T (p.Arg3Trp)	PHKG1 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 1467711	NC_000007.13:g.(?_56079455)_(56174106_?)dup	SUMF2, CCT6A +3 more	Duplication	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 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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 503572	GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3	PHKG1, PSPH +8 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 more	Copy number loss	See cases	GPathogenic
Select item 394272	GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3	CCT6A, CHCHD2 +7 more	Copy number gain	See cases	GBenign
Select item 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 71