ClinVar for Gene (Select 80012) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306090	NM_024947.4(PHC3):c.83C>G (p.Thr28Ser)	PHC3 (T16S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306089	NM_024947.4(PHC3):c.2735G>A (p.Arg912Gln)	PHC3 (R900Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306088	NM_024947.4(PHC3):c.2719C>T (p.Arg907Trp)	PHC3 (R895W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306087	NM_024947.4(PHC3):c.2683C>T (p.Arg895Cys)	PHC3 (R895C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306086	NM_024947.4(PHC3):c.1306C>T (p.Pro436Ser)	PHC3 (P424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212025	NM_024947.4(PHC3):c.769A>G (p.Ile257Val)	PHC3 (I245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212024	NM_024947.4(PHC3):c.677A>G (p.Gln226Arg)	PHC3 (Q214R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212022	NM_024947.4(PHC3):c.2972C>T (p.Ser991Phe)	PHC3 (S991F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212021	NM_024947.4(PHC3):c.2711G>A (p.Arg904His)	PHC3 (R904H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212020	NM_024947.4(PHC3):c.2677C>T (p.Arg893Cys)	PHC3 (R881C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212019	NM_024947.4(PHC3):c.2579C>T (p.Ala860Val)	PHC3 (A860V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212017	NM_024947.4(PHC3):c.2260A>G (p.Ile754Val)	PHC3 (I742V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212016	NM_024947.4(PHC3):c.2077A>G (p.Met693Val)	PHC3 (M681V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212015	NM_024947.4(PHC3):c.1994C>T (p.Ser665Phe)	PHC3 (S665F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212013	NM_024947.4(PHC3):c.1568C>T (p.Ala523Val)	PHC3 (A523V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212012	NM_024947.4(PHC3):c.1550T>C (p.Met517Thr)	PHC3 (M505T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212011	NM_024947.4(PHC3):c.1366G>A (p.Val456Met)	PHC3 (V444M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212009	NM_024947.4(PHC3):c.1130G>A (p.Ser377Asn)	PHC3 (S365N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212008	NM_024947.4(PHC3):c.1123G>T (p.Ala375Ser)	PHC3 (A363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212007	NM_024947.4(PHC3):c.1010T>G (p.Leu337Arg)	PHC3 (L325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654271	NM_024947.4(PHC3):c.2877T>C (p.Asp959=)	PHC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622134	NM_024947.4(PHC3):c.1157C>T (p.Pro386Leu)	PHC3 (P374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620659	NM_024947.4(PHC3):c.1463C>G (p.Ser488Cys)	PHC3 (S476C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600822	NM_024947.4(PHC3):c.2644C>T (p.His882Tyr)	PHC3 (H870Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594925	NM_024947.4(PHC3):c.966G>C (p.Gln322His)	PHC3 (Q322H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589214	NM_024947.4(PHC3):c.2546G>A (p.Arg849His)	PHC3 (R849H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552649	NM_024947.4(PHC3):c.1459G>A (p.Val487Ile)	PHC3 (V475I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539061	NM_024947.4(PHC3):c.2710C>T (p.Arg904Cys)	PHC3 (R892C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531456	NM_024947.4(PHC3):c.2356A>G (p.Thr786Ala)	PHC3 (T786A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517613	NM_024947.4(PHC3):c.1213C>G (p.Gln405Glu)	PHC3 (Q405E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516189	NM_024947.4(PHC3):c.2083A>T (p.Ser695Cys)	PHC3 (S683C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486433	NM_024947.4(PHC3):c.2129A>C (p.Lys710Thr)	PHC3 (K698T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2407022	NM_024947.4(PHC3):c.1045A>G (p.Ile349Val)	PHC3 (I349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396134	NM_024947.4(PHC3):c.691C>T (p.Arg231Cys)	PHC3 (R219C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370853	NM_024947.4(PHC3):c.2075C>A (p.Ser692Tyr)	PHC3 (S680Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366217	NM_024947.4(PHC3):c.2122A>G (p.Ile708Val)	PHC3 (I696V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353325	NM_024947.4(PHC3):c.1531A>G (p.Ile511Val)	PHC3 (I511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346835	NM_024947.4(PHC3):c.2496T>G (p.Phe832Leu)	PHC3 (F820L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342876	NM_024947.4(PHC3):c.164A>G (p.Asp55Gly)	PHC3 (D55G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325113	NM_024947.4(PHC3):c.437C>T (p.Thr146Ile)	PHC3 (T134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310760	NM_024947.4(PHC3):c.1190C>G (p.Ser397Cys)	PHC3 (S385C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297286	NM_024947.4(PHC3):c.1532T>C (p.Ile511Thr)	PHC3 (I499T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288948	NM_024947.4(PHC3):c.1994C>G (p.Ser665Cys)	PHC3 (S653C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276744	NM_024947.4(PHC3):c.799T>G (p.Ser267Ala)	PHC3 (S267A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269966	NM_024947.4(PHC3):c.1561C>T (p.Pro521Ser)	PHC3 (P509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251792	NM_024947.4(PHC3):c.1492C>T (p.His498Tyr)	PHC3 (H486Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251590	NM_024947.4(PHC3):c.1042C>G (p.Pro348Ala)	PHC3 (P348A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243804	NM_024947.4(PHC3):c.1337C>G (p.Pro446Arg)	PHC3 (P434R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235057	NM_024947.4(PHC3):c.1339A>G (p.Asn447Asp)	PHC3 (N447D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222254	NM_024947.4(PHC3):c.2521C>T (p.Pro841Ser)	PHC3 (P829S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340075	GRCh37/hg19 3q26.2(chr3:169894343-169959222)x1	PHC3, PRKCI	Copy number loss	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75